D9A (p.Asp9Ala) variant of VHL (P40337)
D9A (p.Asp9Ala) 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; Von Hippel-Lindau syndrome; Chuvash pol. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes published literature and structural context.
D9A (p.Asp9Ala) variant details
- p.Asp9Ala
- rs1060503560
- ClinGen CA16611161
- ClinVar RCV000471735
- ClinVar RCV002436462
- Conflicting interpretations
- Hereditary cancer-predisposing syndrome; Von Hippel-Lindau syndrome; Chuvash pol
- Missense
- Variant Prioritization Score for Impact Estimate 0.384
- AlphaMissense 0.07
- MetaLR 0.32
- MetaSVM -0.75
- PolyPhen-2 0.00
- SIFT 0.02
- MutPred 0.20
- ClinVar: Conflicting classifications of pathogenicity (Hereditary cancer-predisposing syndrome; Von Hippel-Lindau syndr)
- EBI: Likely benign
- UniProt: Likely benign
- Structural context available
- Cited in: Clinical utility gene card for: familial erythrocytosis. (PMID 22274579)
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)