R35Q (p.Arg35Gln) variant of PSEN1 (Presenilin-1)
R35Q (p.Arg35Gln) in PSEN1 (Presenilin-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Alzheimer disease 3; Acne inversa, familial, 3; Frontotemporal dementia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
R35Q (p.Arg35Gln) variant details
- p.Arg35Gln
- rs63750592
- ClinGen CA224981
- cosmic curated COSV99997
- ClinVar RCV000084280
- Conflicting interpretations
- Alzheimer disease 3; Acne inversa, familial, 3; Frontotemporal dementia
- Missense
- Variant Prioritization Score for Impact Estimate 0.502
- REVEL 0.54
- CADD 22.20
- PolyPhen-2 0.00
- SIFT 0.57
- ClinVar: Conflicting classifications of pathogenicity (Alzheimer disease 3; Acne inversa, familial, 3; Frontotemporal d)
- EBI: Benign (in AD3)
- UniProt: Benign (in AD3)
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Cited in: Screening for PS1 mutations in a referral-based series of AD cases: 21 novel mutations. (PMID 11524469)
- Cited in: Analysis of 138 pathogenic mutations in presenilin-1 on the in vitro production of Aβ42 and Aβ40 peptides by… (PMID 27930341)