T17I (p.Thr17Ile) variant of MET (P08581)
T17I (p.Thr17Ile) in MET (P08581) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Renal cell carcinoma; Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
T17I (p.Thr17Ile) variant details
- p.Thr17Ile
- rs747777018
- ClinGen CA4447937
- ClinVar RCV000823666
- ClinVar RCV002336725
- Uncertain significance
- Renal cell carcinoma; Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.269
- REVEL 0.10
- AlphaMissense 0.09
- MetaLR 0.26
- MetaSVM -0.79
- CADD 22.60
- PolyPhen-2 0.00
- ClinVar: Uncertain significance (Renal cell carcinoma; Hereditary cancer-predisposing syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.8e-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)