R33* (p.Arg33Ter) variant of GJA1 (Gap junction alpha-1 protein)
R33* (p.Arg33Ter) in GJA1 (Gap junction alpha-1 protein) 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 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
R33* (p.Arg33Ter) variant details
- p.Arg33Ter
- rs121912970
- ClinGen CA127017
- ClinVar RCV000018518
- ExAC rs121912970
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.5
- CADD 35.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available
- Cited in: A nonsense mutation in the first transmembrane domain of connexin 43 underlies autosomal recessive oculodentodigital… (PMID 16816024)