R148Q (p.Arg148Gln) variant of GJA1 (Gap junction alpha-1 protein)
R148Q (p.Arg148Gln) in GJA1 (Gap junction alpha-1 protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Oculodentodigital dysplasia; Oculodentodigital dysplasia, autosomal recessive; n. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data, published literature, and structural context.
R148Q (p.Arg148Gln) variant details
- p.Arg148Gln
- rs962041031
- ClinGen CA146810025
- ClinVar RCV000500645
- ClinVar RCV001579352
- Pathogenic/Likely pathogenic
- Oculodentodigital dysplasia; Oculodentodigital dysplasia, autosomal recessive; n
- Missense
- Variant Prioritization Score for Impact Estimate 0.64
- REVEL 0.69
- MetaLR 0.66
- MetaSVM 0.32
- CADD 23.20
- SIFT 0.04
- ClinVar: Pathogenic/Likely pathogenic (Oculodentodigital dysplasia; Oculodentodigital dysplasia, autoso)
- EBI: Pathogenic (in ODDD)
- UniProt: Pathogenic (in ODDD)
- Most common in the Amish population (allele frequency 0.0011)
- Structural context available
- Cited in: Expression of Gja1 correlates with the phenotype observed in oculodentodigital syndrome/type III syndactyly. (PMID 14729836)
- Cited in: A nonsense mutation in the first transmembrane domain of connexin 43 underlies autosomal recessive oculodentodigital… (PMID 16816024)