R33Q (p.Arg33Gln) variant of GJA1 (Gap junction alpha-1 protein)
R33Q (p.Arg33Gln) in GJA1 (Gap junction alpha-1 protein) is a missense change. Clinical records from ClinVar 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 0.79 / 1. The record also includes population frequency data and structural context.
R33Q (p.Arg33Gln) variant details
- p.Arg33Gln
- rs867908644
- NCI-TCGA Cosmic COSV5699
- gnomAD rs867908644
- Uncertain significance
- Oculodentodigital dysplasia, autosomal recessive
- Missense
- Variant Prioritization Score for Impact Estimate 0.792
- REVEL 0.89
- MetaLR 0.99
- MetaSVM 0.99
- CADD 31.00
- PolyPhen-2 1.00
- SIFT 0.03
- ClinVar: Uncertain significance (Oculodentodigital dysplasia, autosomal recessive)
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available