G24S (p.Gly24Ser) variant of VHL (P40337)
G24S (p.Gly24Ser) in VHL (P40337) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Chuvash polycythemia; Von Hippel-Lindau syndrome; Ovarian cancer. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
G24S (p.Gly24Ser) variant details
- p.Gly24Ser
- rs1438223626
- ClinGen CA351747411
- ClinVar RCV000803089
- ClinVar RCV003153844
- Conflicting interpretations
- Chuvash polycythemia; Von Hippel-Lindau syndrome; Ovarian cancer
- Missense
- Variant Prioritization Score for Impact Estimate 0.199
- REVEL 0.07
- MetaLR 0.32
- MetaSVM -0.68
- CADD 15.10
- PolyPhen-2 0.00
- SIFT 0.11
- ClinVar: Conflicting classifications of pathogenicity (Chuvash polycythemia; Von Hippel-Lindau syndrome; Ovarian cancer)
- EBI: Benign
- UniProt: Benign
- 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: Screening for ovarian cancer: U.S. Preventive Services Task Force reaffirmation recommendation statement. (PMID 22964825)