A29V (p.Ala29Val) variant of MET (P08581)
A29V (p.Ala29Val) in MET (P08581) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign/likely benign in the context of Hereditary cancer-predisposing syndrome; Renal cell carcinoma. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
A29V (p.Ala29Val) variant details
- p.Ala29Val
- rs775439897
- ClinGen CA4447943
- cosmic curated COSV59256
- ClinVar RCV001018204
- Benign/Likely benign
- Hereditary cancer-predisposing syndrome; Renal cell carcinoma
- Missense
- Variant Prioritization Score for Impact Estimate 0.461
- REVEL 0.23
- AlphaMissense 0.25
- MetaLR 0.58
- MetaSVM 0.12
- CADD 23.30
- PolyPhen-2 1.00
- ClinVar: Benign/Likely benign (Hereditary cancer-predisposing syndrome; Renal cell carcinoma)
- EBI: Benign
- UniProt: Benign
- Most common in the Non-Finnish European population (allele frequency 5e-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)