A44L (p.Ala44Leu) variant of GJA1 (Gap junction alpha-1 protein)
A44L (p.Ala44Leu) in GJA1 (Gap junction alpha-1 protein) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
A44L (p.Ala44Leu) variant details
- p.Ala44Leu
- gnomAD 6-121446976-AGC-A
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.307
- CADD 32.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available