A681P (p.Ala681Pro) variant of MLH1 (DNA mismatch repair protein Mlh1)
A681P (p.Ala681Pro) 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; Hereditary nonpolyposis colorectal neop. The available variant effect predictions contribute to a CATVariant prioritization score of 0.95 / 1. The record also includes published literature and structural context.
A681P (p.Ala681Pro) variant details
- p.Ala681Pro
- rs63750217
- ClinGen CA10578272
- ClinVar RCV000221566
- ClinVar RCV001378196
- Pathogenic/Likely pathogenic
- Hereditary cancer-predisposing syndrome; Hereditary nonpolyposis colorectal neop
- Missense
- Variant Prioritization Score for Impact Estimate 0.952
- ESM-1b 1.00
- AlphaMissense 0.99
- MutPred 0.82
- ClinVar: Pathogenic/Likely pathogenic (Hereditary cancer-predisposing syndrome; Hereditary nonpolyposis)
- EBI: Pathogenic (in LYNCH2 and CRC)
- UniProt: Pathogenic (in LYNCH2 and CRC)
- Structural context available
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)