Y66H (p.Tyr66His) variant of GJA1 (Gap junction alpha-1 protein)
Y66H (p.Tyr66His) in GJA1 (Gap junction alpha-1 protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Oculodentodigital dysplasia, autosomal recessive. The available variant effect predictions contribute to a CATVariant prioritization score of 0.98 / 1. The record also includes structural context.
Y66H (p.Tyr66His) variant details
- p.Tyr66His
- rs2114283106
- ClinGen CA365558202
- ClinVar RCV002037343
- Ensembl rs2114283106
- Likely pathogenic
- Oculodentodigital dysplasia, autosomal recessive
- Missense
- Variant Prioritization Score for Impact Estimate 0.975
- AlphaMissense 1.00
- MetaLR 0.99
- MetaSVM 1.03
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.94
- ClinVar: Likely pathogenic (Oculodentodigital dysplasia, autosomal recessive)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available