K10E (p.Lys10Glu) variant of RP2 (Protein XRP2)
K10E (p.Lys10Glu) in RP2 (Protein XRP2) is a missense change. Clinical records from ClinVar, EBI, 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 0.43 / 1. The record also includes population frequency data and structural context.
K10E (p.Lys10Glu) variant details
- p.Lys10Glu
- rs1556313447
- ClinGen CA413038193
- ClinVar RCV002223739
- gnomAD rs1556313447
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.427
- REVEL 0.41
- AlphaMissense 0.09
- MetaLR 0.49
- MetaSVM -0.45
- CADD 22.40
- PolyPhen-2 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available