A29P (p.Ala29Pro) variant of MET (P08581)
A29P (p.Ala29Pro) 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; Renal cell carcinoma. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data, published literature, and structural context.
A29P (p.Ala29Pro) variant details
- p.Ala29Pro
- rs765246117
- ClinGen CA4447942
- ClinVar RCV002042031
- ClinVar RCV002449461
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Renal cell carcinoma
- Missense
- Variant Prioritization Score for Impact Estimate 0.525
- AlphaMissense 0.34
- MetaLR 0.56
- MetaSVM -0.11
- PolyPhen-2 1.00
- SIFT 0.10
- MutPred 0.21
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; Renal cell carcinoma)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- 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)