N7I (p.Asn7Ile) variant of VHL (P40337)
N7I (p.Asn7Ile) 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.
N7I (p.Asn7Ile) variant details
- p.Asn7Ile
- rs1575920892
- ClinGen CA351747050
- ClinVar RCV001046537
- Ensembl rs1575920892
- Conflicting interpretations
- Chuvash polycythemia; Von Hippel-Lindau syndrome; Hereditary cancer-predisposing
- Missense
- Variant Prioritization Score for Impact Estimate 0.415
- AlphaMissense 0.12
- MetaLR 0.36
- MetaSVM -0.61
- PolyPhen-2 0.12
- SIFT 0.00
- MutPred 0.17
- ClinVar: Conflicting classifications of pathogenicity (Chuvash polycythemia; Von Hippel-Lindau syndrome; Hereditary can)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Clinical utility gene card for: familial erythrocytosis. (PMID 22274579)
- Cited in: Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors. (PMID 15604628)