E20E (p.Glu20Glu) variant of RP2 (Protein XRP2)
E20E (p.Glu20Glu) in RP2 (Protein XRP2) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
E20E (p.Glu20Glu) variant details
- p.Glu20Glu
- gnomAD X-46837160-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.451
- CADD 8.86
- Population evidence available
- Structural context available
- Literature evidence available