T19T (p.Thr19Thr) variant of GJA5 (Gap junction alpha-5 protein)
T19T (p.Thr19Thr) in GJA5 (Gap junction alpha-5 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 and published literature.
T19T (p.Thr19Thr) variant details
- p.Thr19Thr
- rs781870765
- gnomAD 1-147759182-G-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.0828
- CADD 0.32
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Literature evidence available