L37L (p.Leu37Leu) variant of GJA5 (Gap junction alpha-5 protein)
L37L (p.Leu37Leu) in GJA5 (Gap junction alpha-5 protein) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and published literature.
L37L (p.Leu37Leu) variant details
- p.Leu37Leu
- rs138362351
- gnomAD 1-147759128-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.372
- CADD 10.60
- Most common in the African/African-American population (allele frequency 0.00092)
- Literature evidence available