E17K (p.Glu17Lys) variant of VHL (P40337)
E17K (p.Glu17Lys) in VHL (P40337) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Von Hippel-Lindau syndrome; Chuvash polycythemia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes published literature and structural context.
E17K (p.Glu17Lys) variant details
- p.Glu17Lys
- rs1028898216
- ClinGen CA351747236
- ClinVar RCV002039677
- TOPMed rs1028898216
- Uncertain significance
- Von Hippel-Lindau syndrome; Chuvash polycythemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.504
- AlphaMissense 0.13
- MetaLR 0.57
- MetaSVM -0.38
- PolyPhen-2 0.88
- SIFT 0.00
- MutPred 0.26
- ClinVar: Uncertain significance (Von Hippel-Lindau syndrome; Chuvash polycythemia)
- 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)