V185G (p.Val185Gly) variant of MLH1 (DNA mismatch repair protein Mlh1)
V185G (p.Val185Gly) in MLH1 (DNA mismatch repair protein Mlh1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Lynch syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data, published literature, and structural context.
V185G (p.Val185Gly) variant details
- p.Val185Gly
- rs63750515
- ClinGen CA011003
- ClinVar RCV000075761
- ClinVar RCV000218149
- Pathogenic
- Lynch syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.704
- REVEL 0.82
- ESM-1b 1.00
- AlphaMissense 0.89
- MetaLR 0.41
- MetaSVM -0.25
- CADD 24.30
- ClinVar: Pathogenic (Lynch syndrome)
- EBI: Pathogenic (in LYNCH2)
- UniProt: Pathogenic (in LYNCH2)
- Most common in the Ashkenazi Jewish population (allele frequency 0.0052)
- Structural context available
- Cited in: Functional analysis of hMLH1 variants and HNPCC-related mutations using a human expression system. (PMID 11781295)
- Cited in: Functional significance and clinical phenotype of nontruncating mismatch repair variants of MLH1. (PMID 16083711)