G22E (p.Gly22Glu) variant of GJA1 (Gap junction alpha-1 protein)
G22E (p.Gly22Glu) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.99 / 1. The record also includes published literature and structural context.
G22E (p.Gly22Glu) variant details
- p.Gly22Glu
- rs104893964
- ClinGen CA127013
- NCI-TCGA Cosmic COSV9924
- ClinVar RCV000018506
- Pathogenic/Likely pathogenic
- Oculodentodigital dysplasia; Oculodentodigital dysplasia, autosomal recessive
- Missense
- Variant Prioritization Score for Impact Estimate 0.994
- AlphaMissense 1.00
- MetaLR 0.99
- MetaSVM 1.00
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.99
- ClinVar: Pathogenic/Likely pathogenic (Oculodentodigital dysplasia; Oculodentodigital dysplasia, autoso)
- EBI: Pathogenic (in ODDD)
- UniProt: Pathogenic (in ODDD)
- Structural context available
- Cited in: Connexin 43 (GJA1) mutations cause the pleiotropic phenotype of oculodentodigital dysplasia. (PMID 12457340)
- Cited in: Glaucoma in oculo-dento-osseous dysplasia. (PMID 2309863)