G24V (p.Gly24Val) variant of VHL (P40337)
G24V (p.Gly24Val) in VHL (P40337) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Chuvash polycythemia; Von Hippel-Lindau syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
G24V (p.Gly24Val) variant details
- p.Gly24Val
- rs878854129
- ClinGen CA351747418
- ClinVar RCV002028247
- TOPMed rs878854129
- Uncertain significance
- Chuvash polycythemia; Von Hippel-Lindau syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.321
- REVEL 0.31
- MetaLR 0.34
- MetaSVM -0.62
- CADD 16.60
- PolyPhen-2 0.08
- SIFT 0.01
- ClinVar: Uncertain significance (Chuvash polycythemia; Von Hippel-Lindau syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- 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)