R27H (p.Arg27His) variant of PSEN1 (Presenilin-1)
R27H (p.Arg27His) in PSEN1 (Presenilin-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Pick disease; Acne inversa, familial, 3; Alzheimer disease 3. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
R27H (p.Arg27His) variant details
- p.Arg27His
- rs149562759
- ClinGen CA7256652
- cosmic curated COSV56197
- ClinVar RCV001120055
- Conflicting interpretations
- Pick disease; Acne inversa, familial, 3; Alzheimer disease 3
- Missense
- Variant Prioritization Score for Impact Estimate 0.53
- REVEL 0.50
- CADD 24.00
- PolyPhen-2 0.01
- SIFT 0.14
- ClinVar: Conflicting classifications of pathogenicity (Pick disease; Acne inversa, familial, 3; Alzheimer disease 3)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- Structural context available
- Cited in: EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias. (PMID 20298421)
- Cited in: Alzheimer Disease Overview. (PMID 20301340)