E48K (p.Glu48Lys) variant of GJA1 (Gap junction alpha-1 protein)
E48K (p.Glu48Lys) 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 structural context.
E48K (p.Glu48Lys) variant details
- p.Glu48Lys
- rs1773899790
- ClinGen CA365558001
- ClinVar RCV001329666
- ClinVar RCV001378531
- Pathogenic/Likely pathogenic
- Oculodentodigital dysplasia; Oculodentodigital dysplasia, autosomal recessive
- Missense
- Variant Prioritization Score for Impact Estimate 0.99
- AlphaMissense 0.99
- MetaLR 0.99
- MetaSVM 1.01
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.98
- ClinVar: Pathogenic/Likely pathogenic (Oculodentodigital dysplasia; Oculodentodigital dysplasia, autoso)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available