G2V (p.Gly2Val) variant of RP2 (Protein XRP2)
G2V (p.Gly2Val) in RP2 (Protein XRP2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data, published literature, and structural context.
G2V (p.Gly2Val) variant details
- p.Gly2Val
- gnomAD X-46837105-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.812
- REVEL 0.89
- CADD 26.30
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available