E10K (p.Glu10Lys) variant of VHL (P40337)
E10K (p.Glu10Lys) 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; Nonpapillary renal cell carcin. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
E10K (p.Glu10Lys) variant details
- p.Glu10Lys
- rs1057519261
- ClinGen CA16043991
- cosmic curated COSV56546
- ClinVar RCV000415643
- Conflicting interpretations
- Chuvash polycythemia; Von Hippel-Lindau syndrome; Nonpapillary renal cell carcin
- Missense
- Variant Prioritization Score for Impact Estimate 0.281
- REVEL 0.29
- MetaLR 0.34
- MetaSVM -0.57
- CADD 14.40
- PolyPhen-2 0.12
- SIFT 0.06
- ClinVar: Conflicting classifications of pathogenicity (Chuvash polycythemia; Von Hippel-Lindau syndrome; Nonpapillary r)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the HGDP:BIAKA population (allele frequency 0.93)
- 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)