W29R (p.Trp29Arg) variant of RP2 (Protein XRP2)
W29R (p.Trp29Arg) in RP2 (Protein XRP2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data, published literature, and structural context.
W29R (p.Trp29Arg) variant details
- p.Trp29Arg
- gnomAD X-46837185-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.607
- REVEL 0.60
- CADD 31.00
- PolyPhen-2 0.98
- SIFT 0.05
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- Structural context available
- Literature evidence available