Y78* (p.Tyr78Ter) variant of CNGA1 (P29973)
Y78* (p.Tyr78Ter) in CNGA1 (P29973) 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 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
Y78* (p.Tyr78Ter) variant details
- p.Tyr78Ter
- rs1436425494
- ClinGen CA356834547
- ClinVar RCV001724853
- ClinVar RCV003558851
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.429
- CADD 36.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Cited in: Nonsyndromic Retinitis Pigmentosa Overview. (PMID 20301590)
- Cited in: Clinical utility gene card for: BEST1-related dystrophies (Bestrophinopathies). (PMID 22234150)