K25M (p.Lys25Met) variant of RP2 (Protein XRP2)
K25M (p.Lys25Met) in RP2 (Protein XRP2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
K25M (p.Lys25Met) variant details
- p.Lys25Met
- gnomAD X-46837174-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.443
- REVEL 0.48
- CADD 23.90
- PolyPhen-2 0.28
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available