E20G (p.Glu20Gly) variant of RP2 (Protein XRP2)
E20G (p.Glu20Gly) in RP2 (Protein XRP2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data and structural context.
E20G (p.Glu20Gly) variant details
- p.Glu20Gly
- Ensembl rs1924523547
- Missense
- Variant Prioritization Score for Impact Estimate 0.194
- REVEL 0.14
- CADD 18.40
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available