L555R (p.Leu555Arg) variant of MLH1 (DNA mismatch repair protein Mlh1)
L555R (p.Leu555Arg) in MLH1 (DNA mismatch repair protein Mlh1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Lynch syndrome; Hereditary nonpolyposis colorectal neoplasms; Hereditary cancer. The available variant effect predictions contribute to a CATVariant prioritization score of 0.94 / 1. The record also includes published literature and structural context.
L555R (p.Leu555Arg) variant details
- p.Leu555Arg
- rs587778937
- ClinGen CA352060764
- cosmic curated COSV51625
- ClinVar RCV000499458
- Pathogenic/Likely pathogenic
- Lynch syndrome; Hereditary nonpolyposis colorectal neoplasms; Hereditary cancer
- Missense
- Variant Prioritization Score for Impact Estimate 0.944
- ESM-1b 1.00
- AlphaMissense 0.96
- MutPred 0.80
- ClinVar: Pathogenic/Likely pathogenic (Lynch syndrome; Hereditary nonpolyposis colorectal neoplasms; He)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)
- Cited in: Practice parameters for the identification and testing of patients at risk for dominantly inherited colorectal… (PMID 11598466)