G138D (p.Gly138Asp) variant of GJA1 (Gap junction alpha-1 protein)
G138D (p.Gly138Asp) 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; Oculodentodigital dysplasia, autosomal recessive. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes structural context.
G138D (p.Gly138Asp) variant details
- p.Gly138Asp
- rs1554201019
- ClinGen CA365558957
- ClinVar RCV000557512
- ClinVar RCV002527897
- Pathogenic
- Oculodentodigital dysplasia; Oculodentodigital dysplasia, autosomal recessive
- Missense
- Variant Prioritization Score for Impact Estimate 0.67
- AlphaMissense 0.94
- MetaLR 0.75
- MetaSVM 0.51
- PolyPhen-2 0.78
- SIFT 0.18
- EVE 0.33
- ClinVar: Pathogenic (Oculodentodigital dysplasia; Oculodentodigital dysplasia, autoso)
- EBI: Pathogenic (in ODDD)
- UniProt: Pathogenic (in ODDD)
- Structural context available