H74C (p.His74Cys) variant of GJA1 (Gap junction alpha-1 protein)
H74C (p.His74Cys) in GJA1 (Gap junction alpha-1 protein) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data, published literature, and structural context.
H74C (p.His74Cys) variant details
- p.His74Cys
- rs1229680139
- gnomAD 6-121447061-ATC-A
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.578
- CADD 31.00
- Population evidence available
- Structural context available
- Literature evidence available