A3V (p.Ala3Val) variant of MET (P08581)
A3V (p.Ala3Val) 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 available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data, published literature, and structural context.
A3V (p.Ala3Val) variant details
- p.Ala3Val
- rs1797064164
- ClinGen CA368968157
- NCI-TCGA Cosmic COSV1005
- cosmic curated COSV10057
- Conflicting interpretations
- Renal cell carcinoma; Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.193
- REVEL 0.11
- MetaLR 0.41
- MetaSVM -0.27
- CADD 11.00
- PolyPhen-2 0.20
- SIFT 0.35
- ClinVar: Conflicting classifications of pathogenicity (Renal cell carcinoma; Hereditary cancer-predisposing syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 3.8e-05)
- 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)