N78T (p.Asn78Thr) variant of VHL (P40337)
N78T (p.Asn78Thr) 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; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes published literature and structural context.
N78T (p.Asn78Thr) variant details
- p.Asn78Thr
- rs5030804
- Civic 1756
- ClinGen CA357095
- cosmic curated COSV56559
- Pathogenic
- Von Hippel-Lindau syndrome; Chuvash polycythemia; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.883
- AlphaMissense 0.99
- MetaLR 1.00
- MetaSVM 0.80
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.65
- ClinVar: Pathogenic (Von Hippel-Lindau syndrome; Chuvash polycythemia; not provided)
- EBI: Pathogenic (in VHLD)
- UniProt: Pathogenic (in VHLD)
- 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: Clinical utility gene card for: familial erythrocytosis. (PMID 22274579)