E18G (p.Glu18Gly) variant of RP2 (Protein XRP2)
E18G (p.Glu18Gly) in RP2 (Protein XRP2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
E18G (p.Glu18Gly) variant details
- p.Glu18Gly
- gnomAD X-46837153-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.199
- REVEL 0.17
- CADD 16.70
- PolyPhen-2 0.00
- SIFT 0.20
- Population evidence available
- Structural context available
- Literature evidence available