I130T (p.Ile130Thr) variant of GJA1 (Gap junction alpha-1 protein)
I130T (p.Ile130Thr) in GJA1 (Gap junction alpha-1 protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Oculodentodigital dysplasia, autosomal recessive. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data, published literature, and structural context.
I130T (p.Ile130Thr) variant details
- p.Ile130Thr
- rs1554201017
- ClinGen CA365558896
- ClinVar RCV000549390
- UniProt VAR 015759
- Pathogenic
- Oculodentodigital dysplasia, autosomal recessive
- Missense
- Variant Prioritization Score for Impact Estimate 0.649
- REVEL 0.72
- MetaLR 0.79
- MetaSVM 0.58
- CADD 22.00
- PolyPhen-2 0.01
- SIFT 0.61
- ClinVar: Pathogenic (Oculodentodigital dysplasia, autosomal recessive)
- EBI: Pathogenic (in ODDD)
- UniProt: Pathogenic (in ODDD)
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: Connexin 43 (GJA1) mutations cause the pleiotropic phenotype of oculodentodigital dysplasia. (PMID 12457340)
- Cited in: A nonsense mutation in the first transmembrane domain of connexin 43 underlies autosomal recessive oculodentodigital… (PMID 16816024)