S111G (p.Ser111Gly) variant of VHL (P40337)
S111G (p.Ser111Gly) in VHL (P40337) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Von Hippel-Lindau syndrome; Chuvash polycythemia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data, published literature, and structural context.
S111G (p.Ser111Gly) variant details
- p.Ser111Gly
- rs1559426203
- ClinGen CA351751321
- cosmic curated COSV56551
- ClinVar RCV000780788
- Pathogenic
- Von Hippel-Lindau syndrome; Chuvash polycythemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.68
- REVEL 0.69
- MetaLR 0.98
- MetaSVM 1.04
- CADD 29.30
- PolyPhen-2 0.72
- SIFT 0.03
- ClinVar: Pathogenic (Von Hippel-Lindau syndrome; Chuvash polycythemia)
- EBI: Pathogenic (in VHLD)
- UniProt: Pathogenic (in VHLD)
- Population evidence available
- 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)