D39V (p.Asp39Val) variant of RP2 (Protein XRP2)
D39V (p.Asp39Val) in RP2 (Protein XRP2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data, published literature, and structural context.
D39V (p.Asp39Val) variant details
- p.Asp39Val
- gnomAD X-46853489-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.722
- REVEL 0.83
- CADD 25.70
- PolyPhen-2 0.72
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available