L37L (p.Leu37Leu) variant of GJA1 (Gap junction alpha-1 protein)
L37L (p.Leu37Leu) in GJA1 (Gap junction alpha-1 protein) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
L37L (p.Leu37Leu) variant details
- p.Leu37Leu
- rs1773899212
- gnomAD 6-121446956-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.337
- CADD 8.29
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available