P17H (p.Pro17His) variant of RP2 (Protein XRP2)
P17H (p.Pro17His) in RP2 (Protein XRP2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
P17H (p.Pro17His) variant details
- p.Pro17His
- gnomAD X-46837150-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.289
- REVEL 0.27
- CADD 14.50
- PolyPhen-2 0.12
- SIFT 0.16
- Population evidence available
- Structural context available
- Literature evidence available