R32C (p.Arg32Cys) variant of RP2 (Protein XRP2)
R32C (p.Arg32Cys) 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.
R32C (p.Arg32Cys) variant details
- p.Arg32Cys
- gnomAD X-46837194-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.68
- REVEL 0.70
- CADD 32.00
- PolyPhen-2 0.96
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available