A18G (p.Ala18Gly) variant of VHL (P40337)
A18G (p.Ala18Gly) in VHL (P40337) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes published literature and structural context.
A18G (p.Ala18Gly) variant details
- p.Ala18Gly
- rs1553619302
- ClinGen CA351747279
- ClinVar RCV004520907
- TOPMed rs1553619302
- Likely benign
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.403
- AlphaMissense 0.09
- MetaLR 0.34
- MetaSVM -0.72
- PolyPhen-2 0.08
- SIFT 0.01
- MutPred 0.14
- ClinVar: Likely benign (Hereditary cancer-predisposing syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)