A40S (p.Ala40Ser) variant of GJA1 (Gap junction alpha-1 protein)
A40S (p.Ala40Ser) in GJA1 (Gap junction alpha-1 protein) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
A40S (p.Ala40Ser) variant details
- p.Ala40Ser
- rs1562173987
- gnomAD 6-121446946-A-AAT
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.29
- CADD 29.60
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available