I11V (p.Ile11Val) variant of MET (P08581)
I11V (p.Ile11Val) in MET (P08581) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary cancer-predisposing syndrome; Renal cell carcinoma. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data, published literature, and structural context.
I11V (p.Ile11Val) variant details
- p.Ile11Val
- rs1584875601
- ClinGen CA368968196
- ClinVar RCV002234216
- ClinVar RCV004639354
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Renal cell carcinoma
- Missense
- Variant Prioritization Score for Impact Estimate 0.0821
- REVEL 0.01
- MetaLR 0.17
- MetaSVM -0.99
- CADD 4.74
- PolyPhen-2 0.00
- SIFT 0.25
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; Renal cell carcinoma)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-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)