T19M (p.Thr19Met) variant of GJA1 (Gap junction alpha-1 protein)
T19M (p.Thr19Met) in GJA1 (Gap junction alpha-1 protein) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data, published literature, and structural context.
T19M (p.Thr19Met) variant details
- p.Thr19Met
- gnomAD 6-121446902-AC-A
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.571
- CADD 27.60
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available