R32S (p.Arg32Ser) variant of RP2 (Protein XRP2)
R32S (p.Arg32Ser) in RP2 (Protein XRP2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data, published literature, and structural context.
R32S (p.Arg32Ser) variant details
- p.Arg32Ser
- gnomAD X-46837194-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.631
- REVEL 0.66
- CADD 26.60
- PolyPhen-2 0.50
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available