E48E (p.Glu48Glu) variant of GJA1 (Gap junction alpha-1 protein)
E48E (p.Glu48Glu) in GJA1 (Gap junction alpha-1 protein) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
E48E (p.Glu48Glu) variant details
- p.Glu48Glu
- gnomAD 6-121446991-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.35
- CADD 10.30
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available