G63* (p.Gly63Ter) variant of TULP1 (Tubby-related protein 1)
G63* (p.Gly63Ter) 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 0.64 / 1. The record also includes population frequency data, published literature, and structural context.
G63* (p.Gly63Ter) variant details
- p.Gly63Ter
- rs757725696
- ClinGen CA3773004
- ClinVar RCV001376483
- ClinVar RCV003771221
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.636
- CADD 34.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the East Asian population (allele frequency 0.00039)
- 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)