G19R (p.Gly19Arg) variant of VHL (P40337)
G19R (p.Gly19Arg) 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 0.40 / 1. The record also includes published literature and structural context.
G19R (p.Gly19Arg) variant details
- p.Gly19Arg
- rs1382387188
- ClinGen CA351747289
- ClinVar RCV001966298
- gnomAD rs1382387188
- Uncertain significance
- Von Hippel-Lindau syndrome; Chuvash polycythemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.403
- AlphaMissense 0.09
- MetaLR 0.36
- MetaSVM -0.61
- PolyPhen-2 0.04
- SIFT 0.00
- MutPred 0.21
- 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)