E20D (p.Glu20Asp) variant of RP2 (Protein XRP2)
E20D (p.Glu20Asp) in RP2 (Protein XRP2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
E20D (p.Glu20Asp) variant details
- p.Glu20Asp
- gnomAD X-46837160-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.295
- REVEL 0.17
- CADD 11.40
- PolyPhen-2 0.00
- SIFT 0.53
- Population evidence available
- Structural context available
- Literature evidence available