V17F (p.Val17Phe) variant of MSH2 (DNA mismatch repair protein Msh2)
V17F (p.Val17Phe) in MSH2 (DNA mismatch repair protein Msh2) is a missense change. Clinical records from EBI and UniProt describe it as likely benign in the context of in gastric cancer. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
V17F (p.Val17Phe) variant details
- p.Val17Phe
- rs63750966
- ClinGen CA021228
- ClinVar RCV000985812
- ClinVar RCV001212396
- Likely benign
- in gastric cancer
- Missense
- Variant Prioritization Score for Impact Estimate 0.371
- REVEL 0.33
- ESM-1b 1.00
- AlphaMissense 0.15
- MetaLR 0.59
- MetaSVM -0.33
- CADD 12.80
- EBI: Likely benign (in gastric cancer)
- UniProt: Likely benign (in gastric cancer)
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Cited in: hMLH1 and hMSH2 mutations in families with familial clustering of gastric cancer and hereditary non-polyposis… (PMID 12132870)