N55N (p.Asn55Asn) variant of GJA1 (Gap junction alpha-1 protein)
N55N (p.Asn55Asn) in GJA1 (Gap junction alpha-1 protein) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
N55N (p.Asn55Asn) variant details
- p.Asn55Asn
- rs1389741457
- gnomAD 6-121447012-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.351
- CADD 10.30
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available