A8T (p.Ala8Thr) variant of MET (P08581)
A8T (p.Ala8Thr) 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; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data, published literature, and structural context.
A8T (p.Ala8Thr) variant details
- p.Ala8Thr
- rs758564871
- ClinGen CA4447931
- ClinVar RCV000568281
- ClinVar RCV000628725
- Conflicting interpretations
- Renal cell carcinoma; Hereditary cancer-predisposing syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.169
- REVEL 0.07
- AlphaMissense 0.10
- MetaLR 0.26
- MetaSVM -0.61
- CADD 7.71
- PolyPhen-2 0.00
- ClinVar: Conflicting classifications of pathogenicity (Renal cell carcinoma; Hereditary cancer-predisposing syndrome; n)
- EBI: Benign
- UniProt: Benign
- Most common in the Non-Finnish European population (allele frequency 1.6e-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)