Q26K (p.Gln26Lys) variant of RP2 (Protein XRP2)
Q26K (p.Gln26Lys) in RP2 (Protein XRP2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
Q26K (p.Gln26Lys) variant details
- p.Gln26Lys
- gnomAD X-46837176-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.411
- REVEL 0.27
- CADD 15.90
- PolyPhen-2 0.01
- SIFT 0.97
- Population evidence available
- Structural context available
- Literature evidence available