V13L (p.Val13Leu) variant of VHL (P40337)
V13L (p.Val13Leu) in VHL (P40337) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Chuvash polycythemia; Von Hippel-Lindau syndrome; Hereditary cancer-predisposing. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes published literature and structural context.
V13L (p.Val13Leu) variant details
- p.Val13Leu
- rs919338576
- ClinGen CA351747145
- ClinVar RCV001927607
- ClinVar RCV004804288
- Conflicting interpretations
- Chuvash polycythemia; Von Hippel-Lindau syndrome; Hereditary cancer-predisposing
- Missense
- Variant Prioritization Score for Impact Estimate 0.408
- AlphaMissense 0.11
- MetaLR 0.35
- MetaSVM -0.67
- PolyPhen-2 0.00
- SIFT 0.12
- MutPred 0.15
- ClinVar: Conflicting classifications of pathogenicity (Chuvash polycythemia; Von Hippel-Lindau syndrome; Hereditary can)
- 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)