Y40D (p.Tyr40Asp) variant of RP2 (Protein XRP2)
Y40D (p.Tyr40Asp) in RP2 (Protein XRP2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data, published literature, and structural context.
Y40D (p.Tyr40Asp) variant details
- p.Tyr40Asp
- gnomAD X-46853491-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.747
- REVEL 0.87
- CADD 26.40
- PolyPhen-2 0.72
- SIFT 0.00
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Literature evidence available