G2D (p.Gly2Asp) variant of RP2 (Protein XRP2)
G2D (p.Gly2Asp) in RP2 (Protein XRP2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data, published literature, and structural context.
G2D (p.Gly2Asp) variant details
- p.Gly2Asp
- gnomAD X-46837105-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.741
- REVEL 0.77
- CADD 26.40
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 0.00041)
- Structural context available
- Literature evidence available