E47* (p.Glu47Ter) variant of TULP1 (Tubby-related protein 1)
E47* (p.Glu47Ter) 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 0.64 / 1. The record also includes population frequency data, published literature, and structural context.
E47* (p.Glu47Ter) variant details
- p.Glu47Ter
- rs1761224205
- ClinGen CA363785046
- ClinVar RCV001199360
- TOPMed rs1761224205
- Likely pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.645
- CADD 34.00
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Population evidence available
- Structural context available
- Cited in: Nonsyndromic Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy Overview. (PMID 30285347)