Q80* (p.Gln80Ter) variant of TULP1 (Tubby-related protein 1)
Q80* (p.Gln80Ter) 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 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
Q80* (p.Gln80Ter) variant details
- p.Gln80Ter
- rs1309100490
- ClinGen CA363784635
- ClinVar RCV001247233
- ClinVar RCV003106162
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.307
- CADD 32.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Cited in: Nonsyndromic Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy Overview. (PMID 30285347)
- Cited in: Nonsyndromic Retinitis Pigmentosa Overview. (PMID 20301590)