P37A (p.Pro37Ala) variant of RP2 (Protein XRP2)
P37A (p.Pro37Ala) in RP2 (Protein XRP2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
P37A (p.Pro37Ala) variant details
- p.Pro37Ala
- gnomAD X-46853482-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.372
- REVEL 0.32
- CADD 15.00
- PolyPhen-2 0.00
- SIFT 0.41
- Population evidence available
- Structural context available
- Literature evidence available