E18D (p.Glu18Asp) variant of RP2 (Protein XRP2)
E18D (p.Glu18Asp) 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.
E18D (p.Glu18Asp) variant details
- p.Glu18Asp
- gnomAD X-46837154-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.202
- REVEL 0.20
- CADD 11.70
- PolyPhen-2 0.01
- SIFT 0.30
- Population evidence available
- Structural context available
- Literature evidence available