G38E (p.Gly38Glu) variant of GJA1 (Gap junction alpha-1 protein)
G38E (p.Gly38Glu) 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 not provided; Oculodentodigital dysplasia, autosomal recessive. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes structural context.
G38E (p.Gly38Glu) variant details
- p.Gly38Glu
- rs1554200990
- ClinGen CA365557939
- ClinVar RCV003084865
- ClinVar RCV003332408
- Pathogenic/Likely pathogenic
- not provided; Oculodentodigital dysplasia, autosomal recessive
- Missense
- Variant Prioritization Score for Impact Estimate 0.76
- AlphaMissense 0.67
- MetaLR 0.93
- MetaSVM 1.07
- PolyPhen-2 0.93
- SIFT 0.01
- EVE 0.32
- ClinVar: Pathogenic/Likely pathogenic (not provided; Oculodentodigital dysplasia, autosomal recessive)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available