V1220I (p.Val1220Ile) variant of MET (P08581)
V1220I (p.Val1220Ile) in MET (P08581) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Renal cell carcinoma; Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data, published literature, and structural context.
V1220I (p.Val1220Ile) variant details
- p.Val1220Ile
- rs121913670
- ClinGen CA256997
- cosmic curated COSV59262
- ClinVar RCV000014897
- Pathogenic/Likely pathogenic
- Renal cell carcinoma; Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.547
- REVEL 0.46
- AlphaMissense 0.42
- MetaLR 0.08
- MetaSVM -0.82
- CADD 26.30
- PolyPhen-2 0.99
- ClinVar: Pathogenic/Likely pathogenic (Renal cell carcinoma; Hereditary cancer-predisposing syndrome)
- EBI: Pathogenic (in RCCP)
- UniProt: Pathogenic (in RCCP)
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- Structural context available
- Cited in: Germline and somatic mutations in the tyrosine kinase domain of the MET proto-oncogene in papillary renal carcinomas. (PMID 9140397)
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)