C3Y (p.Cys3Tyr) variant of RP2 (Protein XRP2)
C3Y (p.Cys3Tyr) in RP2 (Protein XRP2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data, published literature, and structural context.
C3Y (p.Cys3Tyr) variant details
- p.Cys3Tyr
- gnomAD X-46837108-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.763
- REVEL 0.80
- CADD 27.10
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 0.00031)
- Structural context available
- Literature evidence available