G24R (p.Gly24Arg) variant of VHL (P40337)
G24R (p.Gly24Arg) 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; Chuvash polycythemia; Von Hippel-Lindau. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
G24R (p.Gly24Arg) variant details
- p.Gly24Arg
- rs1438223626
- ClinGen CA351747414
- ClinVar RCV001874775
- ClinVar RCV003164225
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Chuvash polycythemia; Von Hippel-Lindau
- Missense
- Variant Prioritization Score for Impact Estimate 0.339
- REVEL 0.33
- MetaLR 0.45
- MetaSVM -0.51
- CADD 15.10
- PolyPhen-2 0.33
- SIFT 0.24
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; Chuvash polycythemia; V)
- EBI: Benign
- UniProt: Benign
- Most common in the Ashkenazi Jewish population (allele frequency 5.1e-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)