A8S (p.Ala8Ser) variant of MET (P08581)
A8S (p.Ala8Ser) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes published literature and structural context.
A8S (p.Ala8Ser) variant details
- p.Ala8Ser
- rs758564871
- ClinGen CA368968180
- ClinVar RCV004523564
- ExAC rs758564871
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.367
- AlphaMissense 0.10
- MetaLR 0.26
- MetaSVM -0.61
- PolyPhen-2 0.00
- SIFT 0.05
- MutPred 0.28
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- EBI: Benign
- UniProt: Benign
- 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)