A11V (p.Ala11Val) variant of RP2 (Protein XRP2)
A11V (p.Ala11Val) in RP2 (Protein XRP2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
A11V (p.Ala11Val) variant details
- p.Ala11Val
- gnomAD X-46837132-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.3
- REVEL 0.15
- CADD 15.50
- PolyPhen-2 0.00
- SIFT 0.27
- Population evidence available
- Structural context available
- Literature evidence available