Y17S (p.Tyr17Ser) variant of GJA1 (Gap junction alpha-1 protein)
Y17S (p.Tyr17Ser) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes published literature and structural context.
Y17S (p.Tyr17Ser) variant details
- p.Tyr17Ser
- rs104893961
- ClinGen CA127011
- ClinVar RCV000018503
- UniProt VAR 015747
- Pathogenic
- Oculodentodigital dysplasia
- Missense
- Variant Prioritization Score for Impact Estimate 0.863
- AlphaMissense 0.88
- MetaLR 0.97
- MetaSVM 1.11
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.55
- ClinVar: Pathogenic (Oculodentodigital dysplasia)
- EBI: Pathogenic (in ODDD)
- UniProt: Pathogenic (in ODDD)
- Structural context available
- Cited in: Linkage analysis narrows the critical region for oculodentodigital dysplasia to chromosome 6q22-q23. (PMID 10331943)
- Cited in: Connexin 43 (GJA1) mutations cause the pleiotropic phenotype of oculodentodigital dysplasia. (PMID 12457340)