V50L (p.Val50Leu) variant of RP2 (Protein XRP2)
V50L (p.Val50Leu) in RP2 (Protein XRP2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
V50L (p.Val50Leu) variant details
- p.Val50Leu
- gnomAD X-46853521-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.5
- REVEL 0.57
- CADD 19.10
- PolyPhen-2 0.01
- SIFT 0.11
- Most common in the African/African-American population (allele frequency 0.00041)
- Structural context available
- Literature evidence available