E18V (p.Glu18Val) variant of RP2 (Protein XRP2)
E18V (p.Glu18Val) in RP2 (Protein XRP2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
E18V (p.Glu18Val) variant details
- p.Glu18Val
- gnomAD X-46837153-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.21
- REVEL 0.19
- CADD 16.60
- PolyPhen-2 0.04
- SIFT 0.12
- Population evidence available
- Structural context available
- Literature evidence available