Q49E (p.Gln49Glu) variant of GJA1 (Gap junction alpha-1 protein)
Q49E (p.Gln49Glu) in GJA1 (Gap junction alpha-1 protein) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data, published literature, and structural context.
Q49E (p.Gln49Glu) variant details
- p.Gln49Glu
- rs1253619344
- gnomAD 6-121446982-G-GGG
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.718
- CADD 32.00
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Literature evidence available