G101D (p.Gly101Asp) variant of MLH1 (DNA mismatch repair protein Mlh1)
G101D (p.Gly101Asp) 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 1. The available variant effect predictions contribute to a CATVariant prioritization score of 1.00 / 1. The record also includes population frequency data, published literature, and structural context.
G101D (p.Gly101Asp) variant details
- p.Gly101Asp
- rs267607727
- ClinGen CA009617
- ClinVar RCV000075624
- ClinVar RCV000481030
- Likely pathogenic
- Lynch syndrome 1
- Missense
- Variant Prioritization Score for Impact Estimate 1
- ESM-1b 1.00
- AlphaMissense 1.00
- ClinVar: Likely pathogenic (Lynch syndrome 1)
- EBI: Pathogenic (in LYNCH2)
- UniProt: Pathogenic (in LYNCH2)
- Population evidence available
- Structural context available
- Cited in: Genomic deletions in MSH2 or MLH1 are a frequent cause of hereditary non-polyposis colorectal cancer: identification of… (PMID 14635101)
- Cited in: A large fraction of unclassified variants of the mismatch repair genes MLH1 and MSH2 is associated with splicing… (PMID 18561205)