V35L (p.Val35Leu) variant of RP2 (Protein XRP2)
V35L (p.Val35Leu) in RP2 (Protein XRP2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
V35L (p.Val35Leu) variant details
- p.Val35Leu
- gnomAD X-46853476-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.381
- REVEL 0.26
- CADD 20.20
- PolyPhen-2 0.00
- SIFT 0.17
- Most common in the East Asian population (allele frequency 0.00015)
- Structural context available
- Literature evidence available