A85V (p.Ala85Val) variant of PRPH2 (Peripherin-2)
A85V (p.Ala85Val) in PRPH2 (Peripherin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
A85V (p.Ala85Val) variant details
- p.Ala85Val
- gnomAD 6-42722081-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.352
- REVEL 0.10
- CADD 18.60
- PolyPhen-2 0.06
- SIFT 0.09
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available