T19T (p.Thr19Thr) variant of GJA1 (Gap junction alpha-1 protein)
T19T (p.Thr19Thr) in GJA1 (Gap junction alpha-1 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, published literature, and structural context.
T19T (p.Thr19Thr) variant details
- p.Thr19Thr
- rs751197370
- gnomAD 6-121446904-T-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.0893
- CADD 1.22
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available
- Literature evidence available