A40A (p.Ala40Ala) variant of GJA1 (Gap junction alpha-1 protein)
A40A (p.Ala40Ala) in GJA1 (Gap junction alpha-1 protein) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data, published literature, and structural context.
A40A (p.Ala40Ala) variant details
- p.Ala40Ala
- rs1265524797
- gnomAD 6-121446967-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.0847
- CADD 0.57
- Most common in the Non-Finnish European population (allele frequency 4.4e-05)
- Structural context available
- Literature evidence available