T39T (p.Thr39Thr) variant of GJA5 (Gap junction alpha-5 protein)
T39T (p.Thr39Thr) in GJA5 (Gap junction alpha-5 protein) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data and published literature.
T39T (p.Thr39Thr) variant details
- p.Thr39Thr
- rs2148959468
- gnomAD 1-147759122-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.0999
- CADD 2.72
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Literature evidence available