H95Y (p.His95Tyr) variant of GJA1 (Gap junction alpha-1 protein)
H95Y (p.His95Tyr) 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 0.78 / 1. The record also includes population frequency data and structural context.
H95Y (p.His95Tyr) variant details
- p.His95Tyr
- rs2536821601
- ClinGen CA365558532
- ClinVar RCV003631710
- Uncertain significance
- Oculodentodigital dysplasia, autosomal recessive
- Missense
- Variant Prioritization Score for Impact Estimate 0.781
- REVEL 0.83
- MetaLR 0.92
- MetaSVM 0.99
- CADD 23.00
- PolyPhen-2 0.21
- SIFT 0.01
- ClinVar: Uncertain significance (Oculodentodigital dysplasia, autosomal recessive)
- EBI: Variant of uncertain significance (in ODDD)
- UniProt: Uncertain significance (in ODDD)
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available