V15L (p.Val15Leu) variant of MLH1 (DNA mismatch repair protein Mlh1)
V15L (p.Val15Leu) in MLH1 (DNA mismatch repair protein Mlh1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary cancer-predisposing syndrome; Hereditary nonpolyposis colorectal neop. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data, published literature, and structural context.
V15L (p.Val15Leu) variant details
- p.Val15Leu
- rs876660301
- ClinGen CA352060666
- ClinVar RCV000698872
- Ensembl rs876660301
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Hereditary nonpolyposis colorectal neop
- Missense
- Variant Prioritization Score for Impact Estimate 0.808
- REVEL 0.75
- ESM-1b 1.00
- AlphaMissense 0.94
- CADD 31.00
- PolyPhen-2 0.87
- SIFT 0.03
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; Hereditary nonpolyposis)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the HGDP:BIAKA population (allele frequency 0.023)
- 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)