N7S (p.Asn7Ser) variant of VHL (P40337)
N7S (p.Asn7Ser) 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 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
N7S (p.Asn7Ser) variant details
- p.Asn7Ser
- rs1575920892
- ClinGen CA351747048
- ClinVar RCV001298878
- ClinVar RCV002418901
- Conflicting interpretations
- Chuvash polycythemia; Von Hippel-Lindau syndrome; Hereditary cancer-predisposing
- Missense
- Variant Prioritization Score for Impact Estimate 0.21
- REVEL 0.23
- AlphaMissense 0.12
- MetaLR 0.36
- MetaSVM -0.61
- CADD 0.06
- PolyPhen-2 0.12
- ClinVar: Conflicting classifications of pathogenicity (Chuvash polycythemia; Von Hippel-Lindau syndrome; Hereditary can)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- 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)