W8* (p.Trp8Ter) variant of VHL (P40337)
W8* (p.Trp8Ter) in VHL (P40337) is a protein-truncating change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes published literature and structural context.
W8* (p.Trp8Ter) variant details
- p.Trp8Ter
- rs1060503551
- ClinGen CA16611056
- ClinVar RCV000458561
- Ensembl rs1060503551
- Uncertain significance
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.411
- AlphaMissense 0.09
- MetaLR 0.32
- MetaSVM -0.77
- PolyPhen-2 0.00
- SIFT 0.75
- MutPred 0.25
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)