V15M (p.Val15Met) variant of MLH1 (DNA mismatch repair protein Mlh1)
V15M (p.Val15Met) in MLH1 (DNA mismatch repair protein Mlh1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Hereditary nonpolyposis colorectal neoplasms; not provided; Hereditary cancer-pr. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data, published literature, and structural context.
V15M (p.Val15Met) variant details
- p.Val15Met
- rs876660301
- ClinGen CA10578192
- ClinVar RCV000221816
- ClinVar RCV000479027
- Conflicting interpretations
- Hereditary nonpolyposis colorectal neoplasms; not provided; Hereditary cancer-pr
- Missense
- Variant Prioritization Score for Impact Estimate 0.814
- REVEL 0.75
- ESM-1b 1.00
- AlphaMissense 0.95
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (Hereditary nonpolyposis colorectal neoplasms; not provided; Here)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the HGDP:YORUBA population (allele frequency 0.024)
- 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)
- Cited in: Practice parameters for the identification and testing of patients at risk for dominantly inherited colorectal… (PMID 11598466)