A1881V (p.Ala1881Val) variant of ABCA4 (P78363)
A1881V (p.Ala1881Val) in ABCA4 (P78363) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Retinal dystrophy; Severe early-childhood-onset retinal dystrophy; Age related m. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data, published literature, and structural context.
A1881V (p.Ala1881Val) variant details
- p.Ala1881Val
- rs369973540
- ClinGen CA957186
- ClinVar RCV001058803
- ClinVar RCV002471022
- Pathogenic/Likely pathogenic
- Retinal dystrophy; Severe early-childhood-onset retinal dystrophy; Age related m
- Missense
- Variant Prioritization Score for Impact Estimate 0.699
- REVEL 0.66
- AlphaMissense 0.24
- MetaLR 0.78
- MetaSVM 0.67
- CADD 25.20
- PolyPhen-2 0.97
- ClinVar: Pathogenic/Likely pathogenic (Retinal dystrophy; Severe early-childhood-onset retinal dystroph)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Middle Eastern population (allele frequency 0.0012)
- Structural context available
- Cited in: Nonsyndromic Retinitis Pigmentosa Overview. (PMID 20301590)