E125* (p.Glu125Ter) variant of TULP1 (Tubby-related protein 1)
E125* (p.Glu125Ter) in TULP1 (Tubby-related protein 1) 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 0.39 / 1. The record also includes population frequency data and structural context.
E125* (p.Glu125Ter) variant details
- p.Glu125Ter
- rs376074938
- ClinGen CA3772936
- ClinVar RCV003724090
- 1000Genomes rs376074938
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.392
- CADD 32.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 5.4e-06)
- Structural context available