G14R (p.Gly14Arg) variant of VHL (P40337)
G14R (p.Gly14Arg) in VHL (P40337) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary cancer-predisposing syndrome; Von Hippel-Lindau syndrome; Chuvash pol. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
G14R (p.Gly14Arg) variant details
- p.Gly14Arg
- rs1060503559
- ClinGen CA16611166
- ClinVar RCV000467814
- ClinVar RCV002475889
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Von Hippel-Lindau syndrome; Chuvash pol
- Missense
- Variant Prioritization Score for Impact Estimate 0.371
- REVEL 0.39
- MetaLR 0.61
- MetaSVM -0.32
- CADD 16.60
- PolyPhen-2 1.00
- SIFT 0.24
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; Von Hippel-Lindau syndr)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 5e-05)
- 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)