A31V (p.Ala31Val) variant of MET (P08581)
A31V (p.Ala31Val) in MET (P08581) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Renal cell carcinoma; Hereditary cancer-predisposing syndrome. The record also includes published literature and structural context.
A31V (p.Ala31Val) variant details
- p.Ala31Val
- rs2485505163
- ClinGen CA368968323
- ClinVar RCV002371532
- ClinVar RCV003100139
- Conflicting interpretations
- Renal cell carcinoma; Hereditary cancer-predisposing syndrome
- Missense
- ClinVar: Conflicting classifications of pathogenicity (Renal cell carcinoma; Hereditary cancer-predisposing syndrome)
- EBI: Likely benign
- UniProt: Likely benign
- 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)