E6* (p.Glu6Ter) variant of VHL (P40337)
E6* (p.Glu6Ter) 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 population frequency data, published literature, and structural context.
E6* (p.Glu6Ter) variant details
- p.Glu6Ter
- rs545406510
- ClinGen CA351747032
- ClinVar RCV001369118
- ClinVar RCV004006817
- Uncertain significance
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.405
- AlphaMissense 0.10
- MetaLR 0.33
- MetaSVM -0.73
- PolyPhen-2 0.07
- SIFT 0.19
- MutPred 0.19
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)