E14E (p.Glu14Glu) variant of RP2 (Protein XRP2)
E14E (p.Glu14Glu) in RP2 (Protein XRP2) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
E14E (p.Glu14Glu) variant details
- p.Glu14Glu
- gnomAD X-46837142-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.268
- CADD 8.36
- Population evidence available
- Structural context available
- Literature evidence available