R34* (p.Arg34Ter) variant of TULP1 (Tubby-related protein 1)
R34* (p.Arg34Ter) 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 0.71 / 1. The record also includes population frequency data, published literature, and structural context.
R34* (p.Arg34Ter) variant details
- p.Arg34Ter
- rs1331834680
- ClinGen CA363785173
- ClinVar RCV001075606
- ClinVar RCV001255923
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.705
- CADD 35.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Cited in: Nonsyndromic Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy Overview. (PMID 30285347)