G101S (p.Gly101Ser) variant of MLH1 (DNA mismatch repair protein Mlh1)
G101S (p.Gly101Ser) in MLH1 (DNA mismatch repair protein Mlh1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely 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.
G101S (p.Gly101Ser) variant details
- p.Gly101Ser
- rs267607726
- UniProt VAR 054524
- Ensembl rs267607726
- Likely pathogenic
- Lynch syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.964
- ESM-1b 1.00
- AlphaMissense 1.00
- MutPred 0.86
- ClinVar: Likely pathogenic (Lynch syndrome)
- EBI: Pathogenic (in LYNCH2)
- UniProt: Pathogenic (in LYNCH2)
- Structural context available
- Cited in: A large fraction of unclassified variants of the mismatch repair genes MLH1 and MSH2 is associated with splicing… (PMID 18561205)
- Cited in: Microsatellite instability-a useful diagnostic tool to select patients at high risk for hereditary non-polyposis… (PMID 10323887)