P640T (p.Pro640Thr) variant of MLH1 (DNA mismatch repair protein Mlh1)
P640T (p.Pro640Thr) 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 Hereditary cancer-predisposing syndrome; Colorectal cancer, hereditary nonpolypo. The available variant effect predictions contribute to a CATVariant prioritization score of 0.96 / 1. The record also includes published literature and structural context.
P640T (p.Pro640Thr) variant details
- p.Pro640Thr
- rs63749792
- ClinGen CA352065629
- ClinVar RCV000584273
- ClinVar RCV001207961
- Pathogenic/Likely pathogenic
- Hereditary cancer-predisposing syndrome; Colorectal cancer, hereditary nonpolypo
- Missense
- Variant Prioritization Score for Impact Estimate 0.963
- ESM-1b 1.00
- AlphaMissense 0.94
- MutPred 0.89
- ClinVar: Pathogenic/Likely pathogenic (Hereditary cancer-predisposing syndrome; Colorectal cancer, here)
- EBI: Pathogenic (in LYNCH2)
- UniProt: Pathogenic (in LYNCH2)
- 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)