E12* (p.Glu12Ter) variant of VHL (P40337)
E12* (p.Glu12Ter) 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 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
E12* (p.Glu12Ter) variant details
- p.Glu12Ter
- rs1064794788
- ClinGen CA351747132
- ClinVar RCV002465984
- ClinVar RCV004007469
- Uncertain significance
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.507
- CADD 33.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- Structural context available
- Cited in: Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors. (PMID 15604628)
- Cited in: Von Hippel-Lindau Syndrome. (PMID 20301636)