D12E (p.Asp12Glu) variant of GJA1 (Gap junction alpha-1 protein)
D12E (p.Asp12Glu) in GJA1 (Gap junction alpha-1 protein) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data, published literature, and structural context.
D12E (p.Asp12Glu) variant details
- p.Asp12Glu
- gnomAD 6-121446881-G-GA
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.615
- CADD 32.00
- Population evidence available
- Structural context available
- Literature evidence available