G6V (p.Gly6Val) variant of MLH1 (DNA mismatch repair protein Mlh1)
G6V (p.Gly6Val) 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 Hereditary cancer-predisposing syndrome; Colorectal cancer, hereditary nonpolypo. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data, published literature, and structural context.
G6V (p.Gly6Val) variant details
- p.Gly6Val
- rs2080887074
- ClinGen CA352060436
- ClinVar RCV002407891
- ClinVar RCV003465737
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Colorectal cancer, hereditary nonpolypo
- Missense
- Variant Prioritization Score for Impact Estimate 0.751
- REVEL 0.67
- ESM-1b 1.00
- AlphaMissense 0.64
- CADD 29.90
- PolyPhen-2 0.94
- SIFT 0.01
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; Colorectal cancer, here)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:SAN population (allele frequency 1)
- Structural context available
- Cited in: Practice parameters for the identification and testing of patients at risk for dominantly inherited colorectal… (PMID 11598466)
- Cited in: American Society of Clinical Oncology policy statement update: genetic and genomic testing for cancer susceptibility. (PMID 20065170)