Q74* (p.Gln74Ter) variant of CNGA1 (P29973)
Q74* (p.Gln74Ter) 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 0.58 / 1. The record also includes population frequency data and structural context.
Q74* (p.Gln74Ter) variant details
- p.Gln74Ter
- rs1490804242
- ClinVar RCV006476339
- TOPMed rs1490804242
- gnomAD rs1490804242
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.577
- CADD 36.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available