D12Y (p.Asp12Tyr) variant of RP2 (Protein XRP2)
D12Y (p.Asp12Tyr) in RP2 (Protein XRP2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
D12Y (p.Asp12Tyr) variant details
- p.Asp12Tyr
- gnomAD X-46837134-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.288
- REVEL 0.21
- CADD 22.40
- PolyPhen-2 0.00
- SIFT 0.04
- Population evidence available
- Structural context available
- Literature evidence available