G244D (p.Gly244Asp) variant of MLH1 (DNA mismatch repair protein Mlh1)
G244D (p.Gly244Asp) in MLH1 (DNA mismatch repair protein Mlh1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Lynch syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes published literature and structural context.
G244D (p.Gly244Asp) variant details
- p.Gly244Asp
- rs63750303
- ClinGen CA011836
- ClinVar RCV000075830
- ClinVar RCV000573119
- Uncertain significance
- Lynch syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.893
- ESM-1b 1.00
- AlphaMissense 1.00
- MetaLR 0.75
- MetaSVM 0.85
- PolyPhen-2 0.97
- SIFT 0.01
- ClinVar: Uncertain significance (Hereditary nonpolyposis colorectal neoplasms; Hereditary cancer-)
- EBI: Pathogenic (in LYNCH2)
- UniProt: Pathogenic (in LYNCH2)
- Structural context available
- Cited in: Functional analysis of hMLH1 variants and HNPCC-related mutations using a human expression system. (PMID 11781295)
- Cited in: Molecular analysis of hereditary nonpolyposis colorectal cancer in the United States: high mutation detection rate… (PMID 12658575)