G67R (p.Gly67Arg) variant of MLH1 (DNA mismatch repair protein Mlh1)
G67R (p.Gly67Arg) 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 0.92 / 1. The record also includes population frequency data, published literature, and structural context.
G67R (p.Gly67Arg) variant details
- p.Gly67Arg
- rs63750206
- ClinGen CA352035488
- ClinVar RCV000589590
- ClinVar RCV000700612
- Pathogenic/Likely pathogenic
- Lynch syndrome; Hereditary nonpolyposis colorectal neoplasms; Hereditary cancer
- Missense
- Variant Prioritization Score for Impact Estimate 0.924
- REVEL 0.99
- ESM-1b 1.00
- AlphaMissense 1.00
- CADD 28.70
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Lynch syndrome; Hereditary nonpolyposis colorectal neoplasms; He)
- EBI: Pathogenic (in LYNCH2)
- UniProt: Pathogenic (in LYNCH2)
- Most common in the East Asian population (allele frequency 0.0015)
- Structural context available
- Cited in: Influence of selection criteria on mutation detection in patients with hereditary nonpolyposis colorectal cancer. (PMID 10375096)
- Cited in: Molecular analysis of hereditary nonpolyposis colorectal cancer in the United States: high mutation detection rate… (PMID 12658575)