V73A (p.Val73Ala) variant of PRPH2 (Peripherin-2)
V73A (p.Val73Ala) in PRPH2 (Peripherin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
V73A (p.Val73Ala) variant details
- p.Val73Ala
- gnomAD 6-42722117-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.261
- REVEL 0.19
- CADD 20.90
- PolyPhen-2 0.01
- SIFT 0.50
- Population evidence available
- Structural context available
- Literature evidence available