A44A (p.Ala44Ala) variant of GJA1 (Gap junction alpha-1 protein)
A44A (p.Ala44Ala) in GJA1 (Gap junction alpha-1 protein) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
A44A (p.Ala44Ala) variant details
- p.Ala44Ala
- rs770568811
- gnomAD 6-121446979-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.496
- CADD 7.66
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available
- Literature evidence available