L155R (p.Leu155Arg) variant of MLH1 (DNA mismatch repair protein Mlh1)
L155R (p.Leu155Arg) in MLH1 (DNA mismatch repair protein Mlh1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Lynch syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.96 / 1. The record also includes published literature and structural context.
L155R (p.Leu155Arg) variant details
- p.Leu155Arg
- rs63750891
- ClinGen CA010624
- ClinVar RCV000075730
- ClinVar RCV003452740
- Pathogenic
- Lynch syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.961
- ESM-1b 1.00
- AlphaMissense 0.99
- MutPred 0.85
- ClinVar: Pathogenic (Lynch syndrome)
- EBI: Pathogenic (in LYNCH2)
- UniProt: Pathogenic (in LYNCH2)
- Structural context available
- Cited in: Functional significance and clinical phenotype of nontruncating mismatch repair variants of MLH1. (PMID 16083711)
- Cited in: Verification of the three-step model in assessing the pathogenicity of mismatch repair gene variants. (PMID 21120944)