S111N (p.Ser111Asn) variant of VHL (P40337)
S111N (p.Ser111Asn) 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 0.58 / 1. The record also includes population frequency data, published literature, and structural context.
S111N (p.Ser111Asn) variant details
- p.Ser111Asn
- rs869025631
- ClinGen CA357091
- NCI-TCGA Cosmic COSV5654
- cosmic curated COSV56542
- Pathogenic
- Von Hippel-Lindau syndrome; Chuvash polycythemia; Hereditary cancer-predisposing
- Missense
- Variant Prioritization Score for Impact Estimate 0.582
- REVEL 0.54
- AlphaMissense 0.99
- MetaLR 0.98
- MetaSVM 1.04
- CADD 23.20
- PolyPhen-2 0.99
- ClinVar: Pathogenic (Von Hippel-Lindau syndrome; Chuvash polycythemia; Hereditary can)
- 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: Improved detection of germline mutations in the von Hippel-Lindau disease tumor suppressor gene. (PMID 9829911)