A29G (p.Ala29Gly) variant of MET (P08581)
A29G (p.Ala29Gly) 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 0.55 / 1. The record also includes published literature and structural context.
A29G (p.Ala29Gly) variant details
- p.Ala29Gly
- rs775439897
- ClinGen CA368968311
- ClinVar RCV002373414
- ExAC rs775439897
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.547
- AlphaMissense 0.25
- MetaLR 0.58
- MetaSVM 0.12
- PolyPhen-2 1.00
- SIFT 0.03
- MutPred 0.18
- 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)