D12V (p.Asp12Val) variant of RP2 (Protein XRP2)
D12V (p.Asp12Val) in RP2 (Protein XRP2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
D12V (p.Asp12Val) variant details
- p.Asp12Val
- gnomAD X-46837135-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.282
- REVEL 0.20
- CADD 12.80
- PolyPhen-2 0.00
- SIFT 0.26
- Population evidence available
- Structural context available
- Literature evidence available