A40A (p.Ala40Ala) variant of GJA5 (Gap junction alpha-5 protein)
A40A (p.Ala40Ala) in GJA5 (Gap junction alpha-5 protein) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data and published literature.
A40A (p.Ala40Ala) variant details
- p.Ala40Ala
- rs782775686
- gnomAD 1-147759119-A-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.0865
- CADD 0.83
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Literature evidence available