Q164H (p.Gln164His) variant of VHL (P40337)
Q164H (p.Gln164His) in VHL (P40337) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Von Hippel-Lindau syndrome; Chuvash polycythemia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data, published literature, and structural context.
Q164H (p.Gln164His) variant details
- p.Gln164His
- rs1352275281
- ClinGen CA351756157
- cosmic curated COSV56566
- ClinVar RCV000538803
- Pathogenic/Likely pathogenic
- not provided; Von Hippel-Lindau syndrome; Chuvash polycythemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.642
- REVEL 0.72
- MetaLR 0.97
- MetaSVM 1.05
- CADD 24.40
- PolyPhen-2 0.57
- SIFT 0.04
- ClinVar: Pathogenic/Likely pathogenic (not provided; Von Hippel-Lindau syndrome; Chuvash polycythemia)
- EBI: Pathogenic (in VHLD)
- UniProt: Pathogenic (in VHLD)
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- Structural context available
- Cited in: Hereditary phaeochromocytomas and paragangliomas: a study of five susceptibility genes. (PMID 12807974)
- Cited in: Clinical utility gene card for: familial erythrocytosis. (PMID 22274579)