E18E (p.Glu18Glu) variant of RP2 (Protein XRP2)
E18E (p.Glu18Glu) in RP2 (Protein XRP2) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
E18E (p.Glu18Glu) variant details
- p.Glu18Glu
- gnomAD X-46837154-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.201
- CADD 8.47
- Population evidence available
- Structural context available
- Literature evidence available