E22del (p.Glu22del) variant of RP2 (Protein XRP2)
E22del (p.Glu22del) in RP2 (Protein XRP2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data, published literature, and structural context.
E22del (p.Glu22del) variant details
- rs1556313506
- gnomAD X-46837157-CGAG-C
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.184
- CADD 14.60
- Most common in the 1KG:MSL population (allele frequency 0.013)
- Structural context available
- Literature evidence available