S111R (p.Ser111Arg) variant of VHL (P40337)
S111R (p.Ser111Arg) 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; Hereditary cancer-predisposing. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data, published literature, and structural context.
S111R (p.Ser111Arg) variant details
- p.Ser111Arg
- rs1559426203
- ClinGen CA351751320
- ClinVar RCV003450556
- Pathogenic
- Von Hippel-Lindau syndrome; Chuvash polycythemia; Hereditary cancer-predisposing
- Missense
- Variant Prioritization Score for Impact Estimate 0.691
- REVEL 0.80
- MetaLR 0.98
- MetaSVM 1.04
- CADD 24.30
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Von Hippel-Lindau syndrome)
- EBI: Pathogenic (in VHLD)
- UniProt: Pathogenic (in VHLD)
- Population evidence available
- Structural context available
- Cited in: Germline mutations in the Von Hippel-Lindau disease (VHL) gene in families from North America, Europe, and Japan. (PMID 8956040)
- Cited in: Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors. (PMID 15604628)