C35* (p.Cys35Ter) variant of CNGA1 (P29973)
C35* (p.Cys35Ter) 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 0.68 / 1. The record also includes population frequency data and structural context.
C35* (p.Cys35Ter) variant details
- p.Cys35Ter
- rs1237954156
- ClinGen CA356836484
- ClinVar RCV001075406
- ClinVar RCV003442200
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.684
- CADD 37.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Middle Eastern population (allele frequency 0.0007)
- Structural context available