N7K (p.Asn7Lys) variant of VHL (P40337)
N7K (p.Asn7Lys) 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; Chuvash polycythemia; Von Hippel-Lindau. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
N7K (p.Asn7Lys) variant details
- p.Asn7Lys
- rs1060503561
- ClinGen CA351747053
- ClinVar RCV001053669
- ClinVar RCV004678922
- Conflicting interpretations
- Hereditary cancer-predisposing syndrome; Chuvash polycythemia; Von Hippel-Lindau
- Missense
- Variant Prioritization Score for Impact Estimate 0.341
- REVEL 0.14
- MetaLR 0.29
- MetaSVM -0.77
- CADD 6.34
- PolyPhen-2 0.01
- SIFT 0.34
- ClinVar: Conflicting classifications of pathogenicity (Hereditary cancer-predisposing syndrome; Chuvash polycythemia; V)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 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)