E61* (p.Glu61Ter) variant of PDE6B (P35913)
E61* (p.Glu61Ter) in PDE6B (P35913) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data and structural context.
E61* (p.Glu61Ter) variant details
- p.Glu61Ter
- rs767438881
- ClinGen CA2793865
- ClinVar RCV001075048
- ClinVar RCV003117739
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.728
- CADD 40.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00019)
- Structural context available