G138S (p.Gly138Ser) variant of GJA1 (Gap junction alpha-1 protein)
G138S (p.Gly138Ser) 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; Oculodentodigital dysplasia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes structural context.
G138S (p.Gly138Ser) variant details
- p.Gly138Ser
- rs1554201018
- ClinGen CA365558954
- ClinVar RCV000646780
- ClinVar RCV005253024
- Pathogenic
- Oculodentodigital dysplasia, autosomal recessive; Oculodentodigital dysplasia
- Missense
- Variant Prioritization Score for Impact Estimate 0.701
- AlphaMissense 0.72
- MetaLR 0.86
- MetaSVM 0.71
- PolyPhen-2 1.00
- SIFT 0.57
- EVE 0.17
- ClinVar: Pathogenic (Oculodentodigital dysplasia, autosomal recessive; Oculodentodigi)
- EBI: Pathogenic (in ODDD)
- UniProt: Pathogenic (in ODDD)
- Structural context available