G51D (p.Gly51Asp) variant of RP2 (Protein XRP2)
G51D (p.Gly51Asp) in RP2 (Protein XRP2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data, published literature, and structural context.
G51D (p.Gly51Asp) variant details
- p.Gly51Asp
- gnomAD X-46853525-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.774
- REVEL 0.82
- CADD 25.60
- PolyPhen-2 0.72
- SIFT 0.01
- Most common in the HGDP:YAKUT population (allele frequency 0.04)
- Structural context available
- Literature evidence available