W29C (p.Trp29Cys) variant of RP2 (Protein XRP2)
W29C (p.Trp29Cys) in RP2 (Protein XRP2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data, published literature, and structural context.
W29C (p.Trp29Cys) variant details
- p.Trp29Cys
- gnomAD X-46837187-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.677
- REVEL 0.63
- CADD 31.00
- PolyPhen-2 0.78
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available