PSEN1 (Presenilin-1) variants and mutations
PSEN1 (also known as Presenilin-1) is a human protein-coding gene encoding a presenilin-1 protein. Its catalytic activity within gamma-secretase cleaves APP and many other membrane proteins, including Notch receptors. Pathogenic variants alter amyloid-beta production and are the most common known cause of autosomal dominant early-onset Alzheimer disease. This analysis covers 848 PSEN1 variants and mutations. Of these, 79% have computational variant effect predictions. Disease context includes Alzheimer disease 3, acne inversa, familial, 3, and Pick disease. Example PSEN1 variants include M1?, E3K, and E3Q.
Variant analysis overview
- Gene: PSEN1
- Protein: Presenilin-1
- UniProt accession: P49768
- Organism: Homo sapiens
- Variants analyzed: 848
- Variant scope: all variants
- Completed: 2026-08-10
Variant and mutation evidence
- Variant composition: 625 unspecified-consequence records; 103 missense variants; 9 frameshift variants; 83 synonymous variants; 4 splice-region variants; 6 stop-gained variants; 9 in-frame deletions; 1 in-frame insertions; 1 protein altering variant; 1 stop lost; 5 substitution
- Prediction scores: 674 variants have prediction scores (79% of the analyzed set).
Clinical, disease, and population context
- Disease context: 25 disease associations are represented. Top associations: Alzheimer disease 3, acne inversa, familial, 3, Pick disease, frontotemporal dementia, early-onset autosomal dominant Alzheimer disease, semantic dementia, dilated cardiomyopathy 1U, Alzheimer disease, hidradenitis suppurativa, familial isolated dilated cardiomyopathy, desmoid tumor, dementia.
Protein structure and variant hotspots
- Protein features: 9 transmembrane segments; 5 post-translational modification sites.
- Structural context: 355 variants have structural context.
- PTM context: 16 variants overlap post-translational modification sites.
Data sources
Evidence in this analysis draws on EBI Proteins Variation, UniProt, gnomAD v4, EuropePMC, 3D Hotspot Analysis, Interaction Network Analysis, Protein Data Bank, AlphaFold DB, gnomAD constraint, Open Targets, MaveDB, LitVar.
Notable PSEN1 variants
Examples include M1?, E3K, E3Q, E3E, L4Y, P5L, P5S, P5T. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.
- M1?, NCI-TCGA Cosmic COSV5619, cosmic curated COSV56194, Variant assessed as somatic; high impact.
- E3K (p.Glu3Lys), NCI-TCGA Cosmic COSV5619, cosmic curated COSV56196, REVEL 0.56, CADD 24.50, Variant assessed as somatic; moderate impact.
- E3Q (p.Glu3Gln), gnomAD 14-73148026-G-C, REVEL 0.57, CADD 23.90
- E3E (p.Glu3Glu), gnomAD 14-73148028-G-A, CADD 11.50
- L4Y (p.Leu4Tyr), gnomAD 14-73148028-GT-G, CADD 23.80
- P5L (p.Pro5Leu), gnomAD rs1171880969
- P5S (p.Pro5Ser), NCI-TCGA TCGA novel, REVEL 0.46, CADD 20.50, Variant assessed as somatic; moderate impact.
- P5T (p.Pro5Thr), gnomAD 14-73148032-C-A, REVEL 0.58, CADD 21.60
- P5P (p.Pro5Pro), rs371112119, gnomAD 14-73148034-T-C, CADD 12.70
- A6A (p.Ala6Ala), rs759499223, gnomAD 14-73148037-A-G, CADD 10.50
- P7L (p.Pro7Leu), cosmic curated COSV10507, gnomAD rs1313248233, REVEL 0.56, CADD 21.70
- P7P (p.Pro7Pro), rs116466962, gnomAD 14-73148040-G-A, CADD 8.04
- L8L (p.Leu8Leu), rs758564824, gnomAD 14-73148043-G-A, CADD 11.20
- L8F (p.Leu8Phe), gnomAD 14-73148043-G-T, REVEL 0.56, CADD 20.20
- S9P (p.Ser9Pro), gnomAD 14-73148044-T-C, REVEL 0.56, CADD 22.80
- S9S (p.Ser9Ser), gnomAD 14-73148046-C-G, CADD 11.30
- Y10C (p.Tyr10Cys), gnomAD 14-73148048-A-G, REVEL 0.59, CADD 23.10
- Y10S (p.Tyr10Ser), gnomAD 14-73148048-A-C, REVEL 0.53, CADD 22.70
- F11L (p.Phe11Leu), Ensembl rs1897119365
- N13N (p.Asn13Asn), gnomAD 14-73148058-T-C, CADD 13.50
- A14A (p.Ala14Ala), gnomAD 14-73148061-A-C, CADD 12.90
- A14S (p.Ala14Ser), rs569431165, gnomAD 14-73160021-G-T, CADD 1.75
- A14T (p.Ala14Thr), rs569431165, gnomAD 14-73160021-G-A, CADD 1.86
- A14D (p.Ala14Asp), gnomAD 14-73160022-C-A, CADD 2.19
- A14V (p.Ala14Val), gnomAD 14-73160022-C-T, CADD 2.31
- A14G (p.Ala14Gly), gnomAD 14-73160031-C-G, CADD 10.00
- Q15H (p.Gln15His), gnomAD rs1330528266, REVEL 0.57, CADD 24.20
- Q15Q (p.Gln15Gln), gnomAD 14-73148064-G-A, CADD 11.90
- M16I (p.Met16Ile), cosmic curated COSV56197, TOPMed rs1897119716, REVEL 0.47, CADD 22.30
- M16R (p.Met16Arg), ESP rs199759305, ExAC rs199759305, TOPMed rs199759305, gnomAD rs199759305, REVEL 0.58, CADD 22.40, Uncertain significance, Pick disease; Alzheimer disease 3; Frontotemporal dementia
- M16T (p.Met16Thr), ESP rs199759305, ExAC rs199759305, TOPMed rs199759305, gnomAD rs199759305, REVEL 0.51, CADD 20.70
- M16L (p.Met16Leu), gnomAD 14-73148065-A-T, REVEL 0.50, CADD 19.90
- M16K (p.Met16Lys), gnomAD 14-73148066-T-A, REVEL 0.58, CADD 21.70
- S17P (p.Ser17Pro), gnomAD 14-73148068-T-C, REVEL 0.61, CADD 22.70
- S17C (p.Ser17Cys), gnomAD 14-73148069-C-G, REVEL 0.57, CADD 23.80
- E18A (p.Glu18Ala), TOPMed rs1897119823
- D19N (p.Asp19Asn), rs1555350551, NCI-TCGA Cosmic COSV9999, cosmic curated COSV99998, Ensembl rs1555350551, REVEL 0.50, CADD 24.50, Variant assessed as somatic; moderate impact.
- N20S (p.Asn20Ser), gnomAD rs1231923457, REVEL 0.41, CADD 16.80
- L22P (p.Leu22Pro), Ensembl rs780917786
- L22L (p.Leu22Leu), rs550343284, gnomAD 14-73148083-C-T, CADD 9.78
- S23N (p.Ser23Asn), 1000Genomes rs568497767, ExAC rs568497767, gnomAD rs568497767, REVEL 0.47, CADD 21.30
- S23G (p.Ser23Gly), gnomAD 14-73148086-A-G, REVEL 0.51, CADD 22.30
- N24D (p.Asn24Asp), TOPMed rs1203994295, gnomAD rs1203994295, REVEL 0.42, CADD 21.80
- N24K (p.Asn24Lys), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- N24S (p.Asn24Ser), ExAC rs200598249, TOPMed rs200598249, gnomAD rs200598249, REVEL 0.44, CADD 7.96
- N24T (p.Asn24Thr), ExAC rs200598249, TOPMed rs200598249, gnomAD rs200598249, REVEL 0.47, CADD 9.67
- T25I (p.Thr25Ile), gnomAD rs201945418, REVEL 0.50, CADD 15.10
- T25S (p.Thr25Ser), gnomAD rs201945418, REVEL 0.42, CADD 13.20, Uncertain significance, not specified
- T25T (p.Thr25Thr), rs756576165, gnomAD 14-73148094-T-C, CADD 11.70
- V26A (p.Val26Ala), Ensembl rs918641083
- V26L (p.Val26Leu), TOPMed rs1897121060, gnomAD rs1897121060
- V26N (p.Val26Asn), gnomAD 14-73148094-T-TAA, CADD 25.80
- V26I (p.Val26Ile), gnomAD 14-73160015-G-A, CADD 1.08
- V26F (p.Val26Phe), gnomAD 14-73160015-G-T, CADD 0.80
- V26D (p.Val26Asp), gnomAD 14-73160016-T-A, CADD 3.63
- V26V (p.Val26Val), gnomAD 14-73160017-T-C, CADD 4.23
- R27C (p.Arg27Cys), rs886050663, ClinGen CA10635145, ClinVar RCV000274293, ClinVar RCV000357249, REVEL 0.58, CADD 23.60, Uncertain significance, Pick disease; Acne inversa, familial, 3; Frontotemporal dementia
- R27H (p.Arg27His), rs149562759, ClinGen CA7256652, cosmic curated COSV56197, ClinVar RCV001120055, REVEL 0.50, CADD 24.00, Conflicting interpretations, Pick disease; Acne inversa, familial, 3; Alzheimer disease 3
- R27P (p.Arg27Pro), gnomAD 14-73148099-G-C, REVEL 0.58, CADD 24.30
- S28G (p.Ser28Gly), gnomAD 14-73148101-A-G, REVEL 0.58, CADD 22.30
- S28N (p.Ser28Asn), gnomAD 14-73148102-G-A, REVEL 0.42, CADD 18.90
- S28R (p.Ser28Arg), gnomAD 14-73148103-C-G, REVEL 0.55, CADD 21.50
- Q29H (p.Gln29His), cosmic curated COSV99997, ExAC rs747750345, gnomAD rs747750345, REVEL 0.49, CADD 34.00
- Q29R (p.Gln29Arg), gnomAD 14-73148102-GC-G, CADD 25.00
- Q29* (p.Gln29Ter), gnomAD 14-73148104-C-T, CADD 41.00
- D31N (p.Asp31Asn), NCI-TCGA Cosmic COSV5619, cosmic curated COSV56195, Variant assessed as somatic; moderate impact.
- D31V (p.Asp31Val), gnomAD 14-73170801-A-T, REVEL 0.58, CADD 23.00
- D31D (p.Asp31Asp), gnomAD 14-73170802-C-T, CADD 6.34
- N32S (p.Asn32Ser), rs200824179, ClinGen CA7256670, ClinVar RCV003324115, ClinVar RCV003777345, REVEL 0.38, CADD 0.11, Conflicting interpretations, Frontotemporal dementia; Pick disease; Alzheimer disease 3
- N32N (p.Asn32Asn), rs201759335, gnomAD 14-73170805-T-C, CADD 4.82
- R33G (p.Arg33Gly), TOPMed rs1897862584, REVEL 0.53, CADD 16.10
- R33T (p.Arg33Thr), rs777371921, NCI-TCGA Cosmic COSV5619, cosmic curated COSV56195, ExAC rs777371921, REVEL 0.54, CADD 18.90, Variant assessed as somatic; moderate impact.
- R33* (p.Arg33Ter), rs551209945, gnomAD 14-73160012-C-T, CADD 4.52
- R33R (p.Arg33Arg), gnomAD 14-73160012-C-A, CADD 0.72
- R33Q (p.Arg33Gln), rs768786711, gnomAD 14-73160013-G-A, CADD 3.49
- R33L (p.Arg33Leu), gnomAD 14-73160013-G-T, CADD 7.85
- E34K (p.Glu34Lys), gnomAD 14-73170809-G-A, REVEL 0.59, CADD 22.90
- R35Q (p.Arg35Gln), rs63750592, ClinGen CA224981, cosmic curated COSV99997, ClinVar RCV000084280, REVEL 0.54, CADD 22.20, Conflicting interpretations, Alzheimer disease 3; Acne inversa, familial, 3; Frontotemporal dementia
- R35W (p.Arg35Trp), rs746691776, ClinGen CA7256673, cosmic curated COSV99997, ClinVar RCV005410922, REVEL 0.59, CADD 24.40, Uncertain significance, Alzheimer disease 3; Frontotemporal dementia; Pick disease
- Q36* (p.Gln36Ter), ExAC rs776584385, TOPMed rs776584385, gnomAD rs776584385
- Q36E (p.Gln36Glu), ExAC rs776584385, TOPMed rs776584385, gnomAD rs776584385
- Q36K (p.Gln36Lys), gnomAD 14-73170815-C-A, REVEL 0.46, CADD 19.70
- Q36H (p.Gln36His), gnomAD 14-73170816-A-AT, CADD 25.20
- Q36Q (p.Gln36Gln), gnomAD 14-73170817-G-A, CADD 5.51
- E37G (p.Glu37Gly), ExAC rs200958188, gnomAD rs200958188, REVEL 0.45, CADD 22.90
- E37E (p.Glu37Glu), rs1897863594, gnomAD 14-73170820-G-A, CADD 1.08
- H38D (p.His38Asp), gnomAD rs1413353989
- H38Q (p.His38Gln), TOPMed rs938687393, gnomAD rs938687393, REVEL 0.54, CADD 0.02
- H38del (p.His38del), gnomAD 14-73170820-GCAC-, CADD 10.00
- N39H (p.Asn39His), gnomAD 14-73160045-A-C, CADD 10.30
- N39D (p.Asn39Asp), gnomAD 14-73160045-A-G, CADD 6.99
- N39S (p.Asn39Ser), gnomAD 14-73160046-A-G, CADD 7.45
- N39T (p.Asn39Thr), gnomAD 14-73160046-A-C, CADD 7.16
- N39K (p.Asn39Lys), gnomAD 14-73160047-C-A, CADD 5.32
- N39N (p.Asn39Asn), gnomAD 14-73160047-C-T, CADD 6.70
- N39del (p.Asn39del), gnomAD 14-73170821-CACA-, CADD 8.96
- D40H (p.Asp40His), ExAC rs775543665, TOPMed rs775543665, gnomAD rs775543665, REVEL 0.51, CADD 18.50, Uncertain significance
- D40N (p.Asp40Asn), rs775543665, ClinVar RCV004587967, ExAC rs775543665, TOPMed rs775543665, REVEL 0.45, CADD 17.00, Uncertain significance, not specified
- D40del (p.Asp40del), rs759538127, gnomAD 14-73170824-AACG-, CADD 14.40
- D40G (p.Asp40Gly), gnomAD 14-73170828-A-G, REVEL 0.48, CADD 18.80
- D40E (p.Asp40Glu), gnomAD 14-73170829-C-A, REVEL 0.54, CADD 2.05
- R41G (p.Arg41Gly), TOPMed rs1258736994, gnomAD rs1258736994, REVEL 0.53, CADD 17.40, Uncertain significance, not provided
- R41S (p.Arg41Ser), rs997923176, ClinGen CA390302549, ClinVar RCV002711664, ClinVar RCV006460234, AlphaMissense 0.16, MetaLR 0.90, Uncertain significance, Alzheimer disease 3; Acne inversa, familial, 3; Pick disease
- R41T (p.Arg41Thr), Ensembl rs961074832
- p.Arg41 Arg42insHisArg, rs1897864360, gnomAD 14-73170827-G-GAC, CADD 14.60
- R41R (p.Arg41Arg), rs1258736994, gnomAD 14-73170830-A-C, CADD 7.62
- R42G (p.Arg42Gly), rs140189461, ClinGen CA7256685, ClinVar RCV002896115, ClinVar RCV003777888, REVEL 0.54, CADD 14.80, Uncertain significance, Inborn genetic diseases; Pick disease; Frontotemporal dementia
- R42L (p.Arg42Leu), 1000Genomes rs367775281, ESP rs367775281, ExAC rs367775281, TOPMed rs367775281, REVEL 0.63, CADD 19.10, Uncertain significance
- R42P (p.Arg42Pro), 1000Genomes rs367775281, ESP rs367775281, ExAC rs367775281, TOPMed rs367775281, REVEL 0.63, CADD 19.20, Uncertain significance
- R42Q (p.Arg42Gln), rs367775281, ClinGen CA7256686, cosmic curated COSV10876, ClinVar RCV001120059, REVEL 0.53, CADD 18.90, Uncertain significance, Pick disease; Acne inversa, familial, 3; Alzheimer disease 3
- R42W (p.Arg42Trp), rs140189461, NCI-TCGA Cosmic COSV5619, cosmic curated COSV56194, ESP rs140189461, REVEL 0.58, CADD 20.20, Uncertain significance
- R42del (p.Arg42del), gnomAD 14-73170830-AGAC-, CADD 15.40
- S43N (p.Ser43Asn), TOPMed rs1897866089, REVEL 0.53, CADD 8.84
- S43R (p.Ser43Arg), TOPMed rs1594997980, REVEL 0.55, CADD 13.40
- S43T (p.Ser43Thr), gnomAD 14-73160042-T-A, CADD 7.70
- S43P (p.Ser43Pro), gnomAD 14-73160042-T-C, CADD 7.44
- S43L (p.Ser43Leu), gnomAD 14-73160043-C-T, CADD 6.77
- S43* (p.Ser43Ter), gnomAD 14-73160043-C-A, CADD 4.73
- S43S (p.Ser43Ser), rs1457096274, gnomAD 14-73160044-A-C, CADD 7.16
- S43Q (p.Ser43Gln), rs1566629201, gnomAD 14-73170824-A-AAC, CADD 10.90
- S43G (p.Ser43Gly), gnomAD 14-73170836-A-G, REVEL 0.56, CADD 15.90
- L44L (p.Leu44Leu), rs926582101, gnomAD 14-73160027-T-C, CADD 6.03
- L44V (p.Leu44Val), gnomAD 14-73160027-T-G, CADD 6.81
- L44S (p.Leu44Ser), gnomAD 14-73160028-T-C, CADD 7.07
- L44F (p.Leu44Phe), gnomAD 14-73160029-G-T, CADD 6.69
- L44M (p.Leu44Met), gnomAD 14-73160036-C-A, CADD 5.75
- L44P (p.Leu44Pro), gnomAD 14-73160037-T-C, CADD 7.22
- G45Y (p.Gly45Tyr), rs1482783471, gnomAD 14-73170840-TTGGC, CADD 28.30
- G45G (p.Gly45Gly), gnomAD 14-73170844-C-G, CADD 7.40
- H46R (p.His46Arg), Ensembl rs1312532981, REVEL 0.60, CADD 14.10
- H46Y (p.His46Tyr), Ensembl rs1897866471, REVEL 0.57, CADD 18.00, Uncertain significance, not provided
- H46H (p.His46His), rs116882898, gnomAD 14-73170847-C-T, CADD 7.53
- P47L (p.Pro47Leu), Ensembl rs947643420
- P47R (p.Pro47Arg), gnomAD 14-73170849-C-G, REVEL 0.50, CADD 21.20
- E48K (p.Glu48Lys), TOPMed rs1377702483, gnomAD rs1377702483, REVEL 0.65, CADD 23.10
- P49A (p.Pro49Ala), rs200373970, ClinGen CA7256689, ClinVar RCV002088756, ClinVar RCV003007081, REVEL 0.44, CADD 14.10, Conflicting interpretations, not specified; Alzheimer disease 3; Frontotemporal dementia
- P49L (p.Pro49Leu), gnomAD 14-73170855-C-T, REVEL 0.46, CADD 22.10
- P49P (p.Pro49Pro), rs1897867700, gnomAD 14-73170856-A-G, CADD 5.62
- L50V (p.Leu50Val), gnomAD rs1897867823, REVEL 0.48, CADD 8.62
- L50L (p.Leu50Leu), gnomAD 14-73170859-A-G, CADD 5.80
- S51A (p.Ser51Ala), TOPMed rs1897867942, gnomAD rs1897867942, REVEL 0.52, CADD 20.30
- S51C (p.Ser51Cys), TOPMed rs1475323603, gnomAD rs1475323603, REVEL 0.43, CADD 23.20
- S51P (p.Ser51Pro), NCI-TCGA Cosmic COSV5619, cosmic curated COSV56196, TOPMed rs1897867942, gnomAD rs1897867942, Variant assessed as somatic; moderate impact.
- N52D (p.Asn52Asp), gnomAD rs1181060667, REVEL 0.55, CADD 24.40
- N52N (p.Asn52Asn), gnomAD 14-73170865-T-C, CADD 12.60
- R54G (p.Arg54Gly), Ensembl rs1897868217, REVEL 0.42, CADD 18.20
- R54Q (p.Arg54Gln), rs201216284, ClinGen CA7256690, ClinVar RCV001392197, ClinVar RCV005712504, REVEL 0.49, CADD 16.30, Conflicting interpretations, Inborn genetic diseases; Alzheimer disease 3; Acne inversa, familial, 3
- R54* (p.Arg54Ter), gnomAD 14-73170869-C-T, CADD 34.00
- P55S (p.Pro55Ser), ExAC rs766630576, TOPMed rs766630576, gnomAD rs766630576, REVEL 0.57, CADD 15.80
- P55T (p.Pro55Thr), gnomAD 14-73170872-C-A, REVEL 0.49, CADD 15.60
- Q56H (p.Gln56His), ExAC rs755402092, TOPMed rs755402092, gnomAD rs755402092, REVEL 0.55, CADD 20.50
- Q56R (p.Gln56Arg), ExAC rs754392688, TOPMed rs754392688, gnomAD rs754392688, REVEL 0.62, CADD 19.70
- Q56Q (p.Gln56Gln), rs755402092, gnomAD 14-73170877-G-A, CADD 13.60
- G57V (p.Gly57Val), Ensembl rs1897868940, Uncertain significance, Pick disease; Alzheimer disease 3; Frontotemporal dementia
- G57S (p.Gly57Ser), gnomAD 14-73170878-G-A, REVEL 0.49, CADD 16.70
- G57C (p.Gly57Cys), gnomAD 14-73170878-G-T, REVEL 0.56, CADD 22.40
- S59C (p.Ser59Cys), TOPMed rs986331634, REVEL 0.44, CADD 16.90
- S59S (p.Ser59Ser), rs201998552, gnomAD 14-73170886-C-G, CADD 0.09
- R60Q (p.Arg60Gln), TOPMed rs1315157428, gnomAD rs1315157428, REVEL 0.36, CADD 2.20, Uncertain significance, not specified
- R60W (p.Arg60Trp), rs777427451, ClinGen CA7256694, ClinVar RCV001296368, ExAC rs777427451, REVEL 0.38, CADD 16.60, Uncertain significance, Alzheimer disease 3; Acne inversa, familial, 3; Frontotemporal dementia
- R60R (p.Arg60Arg), gnomAD 14-73170887-C-A, CADD 4.66
- R60L (p.Arg60Leu), gnomAD 14-73170888-G-T, REVEL 0.34, CADD 4.32
- Q61Q (p.Gln61Gln), gnomAD 14-73170892-G-A, CADD 5.33
- V62G (p.Val62Gly), Ensembl rs1594998137
- V62L (p.Val62Leu), 1000Genomes rs116314689, ExAC rs116314689, gnomAD rs116314689, REVEL 0.53, CADD 21.40
- V62M (p.Val62Met), 1000Genomes rs116314689, ExAC rs116314689, gnomAD rs116314689, REVEL 0.51, CADD 24.10
- V62A (p.Val62Ala), gnomAD 14-73170894-T-C, REVEL 0.65, CADD 17.90
- V62V (p.Val62Val), rs1897869817, gnomAD 14-73170895-G-T, CADD 10.30
- V63G (p.Val63Gly), Ensembl rs1594998144
- V63V (p.Val63Val), rs1409411737, gnomAD 14-73170898-G-A, CADD 12.30
- E64D (p.Glu64Asp), Ensembl rs1349963459
- Q65R (p.Gln65Arg), TOPMed rs2040750047, gnomAD rs2040750047, REVEL 0.51, CADD 19.40
- Q65E (p.Gln65Glu), gnomAD 14-73170902-C-G, REVEL 0.50, CADD 14.20
- D66G (p.Asp66Gly), Ensembl rs1594998176
- D66D (p.Asp66Asp), gnomAD 14-73170907-T-C, CADD 8.34
- D66E (p.Asp66Glu), gnomAD 14-73170907-T-A, REVEL 0.50, CADD 11.80
- E67G (p.Glu67Gly), TOPMed rs1897870382, gnomAD rs1897870382, REVEL 0.59, CADD 23.90
- E67E (p.Glu67Glu), gnomAD 14-73170910-G-A, CADD 6.84
- E67D (p.Glu67Asp), gnomAD 14-73170910-G-T, REVEL 0.54, CADD 11.70
- E68D (p.Glu68Asp), NCI-TCGA TCGA novel, REVEL 0.52, CADD 13.80, Variant assessed as somatic; moderate impact.
Public PSEN1 analysis runs
- PSEN1 analysis run — PSEN1 (848 variants) — completed 2026-08-10