E22G (p.Glu22Gly) variant of RP2 (Protein XRP2)
E22G (p.Glu22Gly) in RP2 (Protein XRP2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
E22G (p.Glu22Gly) variant details
- p.Glu22Gly
- gnomAD X-46837165-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.261
- REVEL 0.21
- CADD 22.60
- PolyPhen-2 0.00
- SIFT 0.05
- Population evidence available
- Structural context available
- Literature evidence available