G183V (p.Gly183Val) variant of PSEN1 (Presenilin-1)
G183V (p.Gly183Val) in PSEN1 (Presenilin-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Pick disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data, published literature, and structural context.
G183V (p.Gly183Val) variant details
- p.Gly183Val
- rs63751068
- ClinGen CA225061
- ClinVar RCV000019779
- ClinVar RCV000020085
- Pathogenic
- Pick disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.831
- REVEL 0.84
- CADD 33.00
- PolyPhen-2 0.84
- SIFT 0.09
- ClinVar: Pathogenic (Pick disease)
- EBI: Pathogenic (in PIDB and AD3)
- UniProt: Pathogenic (in PIDB and AD3)
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Cited in: A novel presenilin 1 mutation associated with Pick's disease but not beta-amyloid plaques. (PMID 15122701)
- Cited in: Analysis of 138 pathogenic mutations in presenilin-1 on the in vitro production of Aβ42 and Aβ40 peptides by… (PMID 27930341)