C53* (p.Cys53Ter) variant of TULP1 (Tubby-related protein 1)
C53* (p.Cys53Ter) in TULP1 (Tubby-related protein 1) is a protein-truncating change. Clinical records from EBI and UniProt describe it as likely pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data and structural context.
C53* (p.Cys53Ter) variant details
- p.Cys53Ter
- Ensembl rs867359759
- Likely pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.575
- CADD 33.00
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Population evidence available
- Structural context available