W29L (p.Trp29Leu) variant of RP2 (Protein XRP2)
W29L (p.Trp29Leu) in RP2 (Protein XRP2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data, published literature, and structural context.
W29L (p.Trp29Leu) variant details
- p.Trp29Leu
- gnomAD X-46837186-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.623
- REVEL 0.56
- CADD 28.60
- PolyPhen-2 0.49
- SIFT 0.03
- Population evidence available
- Structural context available
- Literature evidence available