V16L (p.Val16Leu) variant of MLH1 (DNA mismatch repair protein Mlh1)
V16L (p.Val16Leu) 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 0.86 / 1. The record also includes population frequency data, published literature, and structural context.
V16L (p.Val16Leu) variant details
- p.Val16Leu
- rs776643257
- ClinGen CA036168
- ClinVar RCV000554111
- ClinVar RCV000565039
- Conflicting interpretations
- Hereditary nonpolyposis colorectal neoplasms; Hereditary cancer-predisposing syn
- Missense
- Variant Prioritization Score for Impact Estimate 0.858
- REVEL 0.85
- ESM-1b 1.00
- AlphaMissense 0.98
- CADD 31.00
- PolyPhen-2 0.93
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (Hereditary nonpolyposis colorectal neoplasms; Hereditary cancer-)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Finnish in Finland (FIN) population (allele frequency 5.6e-05)
- 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)