Q26H (p.Gln26His) variant of RP2 (Protein XRP2)
Q26H (p.Gln26His) 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.
Q26H (p.Gln26His) variant details
- p.Gln26His
- gnomAD X-46837178-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.407
- REVEL 0.39
- CADD 23.30
- PolyPhen-2 0.50
- SIFT 0.13
- Population evidence available
- Structural context available
- Literature evidence available