A31G (p.Ala31Gly) variant of MLH1 (DNA mismatch repair protein Mlh1)
A31G (p.Ala31Gly) 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 nonpolyposis colorectal neoplasms; Colorectal cancer, hereditary nonp. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes population frequency data, published literature, and structural context.
A31G (p.Ala31Gly) variant details
- p.Ala31Gly
- rs730882127
- ClinGen CA013158
- ClinVar RCV000161932
- ClinVar RCV001149363
- Uncertain significance
- Hereditary nonpolyposis colorectal neoplasms; Colorectal cancer, hereditary nonp
- Missense
- Variant Prioritization Score for Impact Estimate 0.879
- REVEL 0.91
- ESM-1b 1.00
- AlphaMissense 0.52
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Hereditary nonpolyposis colorectal neoplasms; Colorectal cancer,)
- EBI: Likely pathogenic (in LYNCH2)
- UniProt: Likely pathogenic (in LYNCH2)
- Most common in the 1KG:FIN population (allele frequency 0.0051)
- 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)