S6Y (p.Ser6Tyr) variant of RP2 (Protein XRP2)
S6Y (p.Ser6Tyr) in RP2 (Protein XRP2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data, published literature, and structural context.
S6Y (p.Ser6Tyr) variant details
- p.Ser6Tyr
- gnomAD X-46837117-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.58
- REVEL 0.57
- CADD 24.70
- PolyPhen-2 0.72
- SIFT 0.03
- Population evidence available
- Structural context available
- Literature evidence available