E22K (p.Glu22Lys) variant of VHL (P40337)
E22K (p.Glu22Lys) 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 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
E22K (p.Glu22Lys) variant details
- p.Glu22Lys
- rs1696118115
- ClinGen CA351747372
- cosmic curated COSV56568
- ClinVar RCV001344937
- Uncertain significance
- Von Hippel-Lindau syndrome; Chuvash polycythemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.314
- REVEL 0.24
- MetaLR 0.51
- MetaSVM -0.50
- CADD 18.70
- PolyPhen-2 0.96
- SIFT 0.03
- ClinVar: Uncertain significance (Von Hippel-Lindau syndrome; Chuvash polycythemia)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 3.4e-06)
- 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)