V28A (p.Val28Ala) variant of PRPH2 (Peripherin-2)
V28A (p.Val28Ala) in PRPH2 (Peripherin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data and structural context.
V28A (p.Val28Ala) variant details
- p.Val28Ala
- ExAC rs761246991
- gnomAD rs761246991
- Missense
- Variant Prioritization Score for Impact Estimate 0.629
- REVEL 0.63
- CADD 24.30
- PolyPhen-2 0.94
- SIFT 0.07
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available