V7F (p.Val7Phe) variant of MLH1 (DNA mismatch repair protein Mlh1)
V7F (p.Val7Phe) 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; Hereditary cancer-predisposing syn. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data, published literature, and structural context.
V7F (p.Val7Phe) variant details
- p.Val7Phe
- rs730881746
- ClinGen CA008120
- ClinVar RCV000160549
- ClinVar RCV000703809
- Conflicting interpretations
- Hereditary nonpolyposis colorectal neoplasms; Hereditary cancer-predisposing syn
- Missense
- Variant Prioritization Score for Impact Estimate 0.652
- REVEL 0.67
- ESM-1b 1.00
- AlphaMissense 0.19
- CADD 25.30
- PolyPhen-2 0.15
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (Hereditary nonpolyposis colorectal neoplasms; Hereditary cancer-)
- EBI: Benign
- UniProt: Benign
- Most common in the HGDP:CAMBODIAN population (allele frequency 0.25)
- 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)