R1334L (p.Arg1334Leu) variant of MSH6 (DNA mismatch repair protein Msh6)
R1334L (p.Arg1334Leu) in MSH6 (DNA mismatch repair protein Msh6) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Lynch syndrome 5; Hereditary nonpolyposis colorectal neoplasms. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data and structural context.
R1334L (p.Arg1334Leu) variant details
- p.Arg1334Leu
- rs2104565974
- ClinGen CA2573134797
- ClinVar RCV002051202
- Ensembl rs2104565974
- Likely pathogenic
- Lynch syndrome 5; Hereditary nonpolyposis colorectal neoplasms
- Missense
- Variant Prioritization Score for Impact Estimate 0.606
- REVEL 0.58
- CADD 35.00
- PolyPhen-2 0.46
- SIFT 0.01
- ClinVar: Likely pathogenic (Lynch syndrome 5; Hereditary nonpolyposis colorectal neoplasms)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Population evidence available
- Structural context available