D28G (p.Asp28Gly) variant of VHL (P40337)
D28G (p.Asp28Gly) in VHL (P40337) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Hereditary cancer-predisposing syndrome; not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes published literature and structural context.
D28G (p.Asp28Gly) variant details
- p.Asp28Gly
- rs2125124629
- ClinGen CA351747510
- cosmic curated COSV56543
- ClinVar RCV002248933
- Conflicting interpretations
- Hereditary cancer-predisposing syndrome; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.377
- AlphaMissense 0.05
- MetaLR 0.24
- MetaSVM -0.82
- PolyPhen-2 0.00
- SIFT 0.70
- MutPred 0.28
- ClinVar: Conflicting classifications of pathogenicity (Hereditary cancer-predisposing syndrome; not specified)
- EBI: Likely benign
- UniProt: Likely 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)