H74H (p.His74His) variant of GJA5 (Gap junction alpha-5 protein)
H74H (p.His74His) in GJA5 (Gap junction alpha-5 protein) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and published literature.
H74H (p.His74His) variant details
- p.His74His
- rs1446774496
- gnomAD 1-147759017-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.299
- CADD 10.60
- Most common in the REMAINING population (allele frequency 3.3e-05)
- Literature evidence available