G24C (p.Gly24Cys) variant of VHL (P40337)
G24C (p.Gly24Cys) 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; Pheochromocytoma. 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.
G24C (p.Gly24Cys) variant details
- p.Gly24Cys
- rs1438223626
- ClinGen CA351747408
- ClinVar RCV000699569
- ClinVar RCV001026041
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Chuvash polycythemia; Pheochromocytoma
- Missense
- Variant Prioritization Score for Impact Estimate 0.369
- REVEL 0.34
- MetaLR 0.47
- MetaSVM -0.49
- CADD 22.80
- PolyPhen-2 0.58
- SIFT 0.01
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; Chuvash polycythemia; P)
- EBI: Benign
- UniProt: Benign
- Most common in the Finnish in Finland (FIN) population (allele frequency 3.8e-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)