V13A (p.Val13Ala) variant of VHL (P40337)
V13A (p.Val13Ala) in VHL (P40337) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Von Hippel-Lindau syndrome; Hereditary cancer-predisposing syndrome; Chuvash pol. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data, published literature, and structural context.
V13A (p.Val13Ala) variant details
- p.Val13Ala
- rs1553619289
- ClinGen CA351747150
- ClinVar RCV001210678
- ClinVar RCV002356899
- Conflicting interpretations
- Von Hippel-Lindau syndrome; Hereditary cancer-predisposing syndrome; Chuvash pol
- Missense
- Variant Prioritization Score for Impact Estimate 0.178
- REVEL 0.22
- MetaLR 0.19
- MetaSVM -0.87
- CADD 0.04
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Conflicting classifications of pathogenicity (Von Hippel-Lindau syndrome; Hereditary cancer-predisposing syndr)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- 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)