A11D (p.Ala11Asp) variant of RP2 (Protein XRP2)
A11D (p.Ala11Asp) in RP2 (Protein XRP2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
A11D (p.Ala11Asp) variant details
- p.Ala11Asp
- gnomAD X-46837132-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.273
- REVEL 0.11
- CADD 13.80
- PolyPhen-2 0.00
- SIFT 0.59
- Population evidence available
- Structural context available
- Literature evidence available