V152G (p.Val152Gly) variant of MLH1 (DNA mismatch repair protein Mlh1)
V152G (p.Val152Gly) 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 Lynch syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.94 / 1. The record also includes published literature and structural context.
V152G (p.Val152Gly) variant details
- p.Val152Gly
- rs1559523949
- ClinGen CA352040284
- ClinVar RCV000702683
- ClinVar RCV002334363
- Conflicting interpretations
- Lynch syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.943
- ESM-1b 1.00
- AlphaMissense 0.86
- MutPred 0.86
- ClinVar: Conflicting classifications of pathogenicity (Hereditary nonpolyposis colorectal neoplasms; Hereditary cancer-)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- 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)