K16K (p.Lys16Lys) variant of GJA5 (Gap junction alpha-5 protein)
K16K (p.Lys16Lys) in GJA5 (Gap junction alpha-5 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 and published literature.
K16K (p.Lys16Lys) variant details
- p.Lys16Lys
- gnomAD 1-147759191-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.342
- CADD 7.90
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Literature evidence available