H163R (p.His163Arg) variant of PSEN1 (Presenilin-1)
H163R (p.His163Arg) in PSEN1 (Presenilin-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Frontotemporal dementia; Alzheimer disease 3; Acne inversa, familial, 3. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes published literature and structural context.
H163R (p.His163Arg) variant details
- p.His163Arg
- rs63750590
- ClinGen CA225034
- ClinVar RCV000019752
- ClinVar RCV000084318
- Pathogenic
- Frontotemporal dementia; Alzheimer disease 3; Acne inversa, familial, 3
- Missense
- Variant Prioritization Score for Impact Estimate 0.703
- AlphaMissense 0.32
- MetaLR 0.96
- MetaSVM 1.03
- PolyPhen-2 0.34
- SIFT 0.09
- EVE 0.39
- ClinVar: Pathogenic (Frontotemporal dementia; Alzheimer disease 3; Acne inversa, fami)
- EBI: Pathogenic (in AD3)
- UniProt: Pathogenic (in AD3)
- Structural context available
- Cited in: Early-onset autosomal dominant Alzheimer disease: prevalence, genetic heterogeneity, and mutation spectrum. (PMID 10441572)
- Cited in: Screening for PS1 mutations in a referral-based series of AD cases: 21 novel mutations. (PMID 11524469)