A6A (p.Ala6Ala) variant of GJA1 (Gap junction alpha-1 protein)
A6A (p.Ala6Ala) in GJA1 (Gap junction alpha-1 protein) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data, published literature, and structural context.
A6A (p.Ala6Ala) variant details
- p.Ala6Ala
- rs200520137
- gnomAD 6-121446865-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.689
- CADD 12.50
- Most common in the Latino/Admixed American population (allele frequency 8.9e-05)
- Structural context available
- Literature evidence available