E20K (p.Glu20Lys) variant of RP2 (Protein XRP2)
E20K (p.Glu20Lys) in RP2 (Protein XRP2) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and structural context.
E20K (p.Glu20Lys) variant details
- p.Glu20Lys
- Ensembl rs1924523272
- Pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.211
- REVEL 0.21
- CADD 9.48
- PolyPhen-2 0.00
- SIFT 0.78
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available