E14D (p.Glu14Asp) variant of RP2 (Protein XRP2)
E14D (p.Glu14Asp) 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.
E14D (p.Glu14Asp) variant details
- p.Glu14Asp
- gnomAD X-46837142-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.236
- REVEL 0.21
- CADD 10.70
- PolyPhen-2 0.01
- SIFT 0.49
- Population evidence available
- Structural context available
- Literature evidence available