R3L (p.Arg3Leu) variant of MSH6 (DNA mismatch repair protein Msh6)
R3L (p.Arg3Leu) in MSH6 (DNA mismatch repair protein Msh6) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data and structural context.
R3L (p.Arg3Leu) variant details
- p.Arg3Leu
- rs1553408078
- ClinGen CA346734473
- ClinVar RCV001347051
- Ensembl rs1553408078
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.585
- REVEL 0.55
- MetaLR 0.45
- MetaSVM -0.16
- CADD 25.00
- PolyPhen-2 0.18
- SIFT 0.01
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available