R53H (p.Arg53His) variant of GJA1 (Gap junction alpha-1 protein)
R53H (p.Arg53His) 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 0.45 / 1. The record also includes population frequency data and structural context.
R53H (p.Arg53His) variant details
- p.Arg53His
- rs2536821268
- ClinGen CA365558039
- ClinVar RCV003081161
- Uncertain significance
- Oculodentodigital dysplasia, autosomal recessive
- Missense
- Variant Prioritization Score for Impact Estimate 0.452
- REVEL 0.45
- MetaLR 0.80
- MetaSVM 0.42
- CADD 24.30
- PolyPhen-2 0.01
- SIFT 0.16
- ClinVar: Uncertain significance (Oculodentodigital dysplasia, autosomal recessive)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available