K4M (p.Lys4Met) variant of RAD51C (O43502)
K4M (p.Lys4Met) in RAD51C (O43502) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data and structural context.
K4M (p.Lys4Met) variant details
- p.Lys4Met
- Ensembl rs2047798678
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.12
- REVEL 0.03
- AlphaMissense 0.18
- MetaLR 0.05
- MetaSVM -1.03
- CADD 13.80
- PolyPhen-2 0.04
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available