E22D (p.Glu22Asp) variant of RP2 (Protein XRP2)
E22D (p.Glu22Asp) in RP2 (Protein XRP2) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
E22D (p.Glu22Asp) variant details
- p.Glu22Asp
- TOPMed rs1924523700
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.228
- REVEL 0.22
- CADD 15.10
- PolyPhen-2 0.02
- SIFT 0.23
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Population evidence available
- Structural context available