Y66C (p.Tyr66Cys) variant of GJA1 (Gap junction alpha-1 protein)
Y66C (p.Tyr66Cys) in GJA1 (Gap junction alpha-1 protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Oculodentodigital dysplasia, autosomal recessive. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes population frequency data and structural context.
Y66C (p.Tyr66Cys) variant details
- p.Tyr66Cys
- rs904683660
- ClinGen CA146810022
- ClinVar RCV003516970
- TOPMed rs904683660
- Uncertain significance
- Oculodentodigital dysplasia, autosomal recessive
- Missense
- Variant Prioritization Score for Impact Estimate 0.879
- REVEL 0.99
- MetaLR 0.99
- MetaSVM 1.00
- CADD 28.90
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Oculodentodigital dysplasia, autosomal recessive)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available