A3T (p.Ala3Thr) variant of MET (P08581)
A3T (p.Ala3Thr) in MET (P08581) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Hereditary cancer-predisposing syndrome; Renal cell carcinoma. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data, published literature, and structural context.
A3T (p.Ala3Thr) variant details
- p.Ala3Thr
- rs1416393044
- ClinGen CA368968152
- ClinVar RCV001044012
- ClinVar RCV004031340
- Conflicting interpretations
- Hereditary cancer-predisposing syndrome; Renal cell carcinoma
- Missense
- Variant Prioritization Score for Impact Estimate 0.184
- REVEL 0.07
- MetaLR 0.32
- MetaSVM -0.44
- CADD 9.14
- PolyPhen-2 0.15
- SIFT 0.98
- ClinVar: Conflicting classifications of pathogenicity (Hereditary cancer-predisposing syndrome; Renal cell carcinoma)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Ashkenazi Jewish population (allele frequency 7.7e-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)