E76* (p.Glu76Ter) variant of CNGA1 (P29973)
E76* (p.Glu76Ter) 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 0.56 / 1. The record also includes population frequency data, published literature, and structural context.
E76* (p.Glu76Ter) variant details
- p.Glu76Ter
- rs121909599
- ClinGen CA126986
- ClinVar RCV000018438
- ESP rs121909599
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.557
- CADD 35.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- Structural context available
- Cited in: Mutations in the gene encoding the alpha subunit of the rod cGMP-gated channel in autosomal recessive retinitis… (PMID 7479749)