T39D (p.Thr39Asp) variant of GJA1 (Gap junction alpha-1 protein)
T39D (p.Thr39Asp) in GJA1 (Gap junction alpha-1 protein) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
T39D (p.Thr39Asp) variant details
- p.Thr39Asp
- gnomAD 6-121446956-C-CT
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.493
- CADD 29.00
- Population evidence available
- Structural context available
- Literature evidence available