A2V (p.Ala2Val) variant of PRPH2 (Peripherin-2)
A2V (p.Ala2Val) in PRPH2 (Peripherin-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of PRPH2-related disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and structural context.
A2V (p.Ala2Val) variant details
- p.Ala2Val
- rs761320905
- ClinGen CA3808681
- NCI-TCGA Cosmic COSV1000
- ClinVar RCV003592395
- Uncertain significance
- PRPH2-related disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.209
- REVEL 0.17
- CADD 16.70
- PolyPhen-2 0.07
- SIFT 0.34
- ClinVar: Uncertain significance (PRPH2-related disorder)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available