E21D (p.Glu21Asp) variant of RP2 (Protein XRP2)
E21D (p.Glu21Asp) in RP2 (Protein XRP2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
E21D (p.Glu21Asp) variant details
- p.Glu21Asp
- gnomAD X-46837163-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.239
- REVEL 0.14
- CADD 16.30
- PolyPhen-2 0.00
- SIFT 0.24
- Population evidence available
- Structural context available
- Literature evidence available