K48K (p.Lys48Lys) variant of GJB1 (Gap junction beta-1 protein)
K48K (p.Lys48Lys) in GJB1 (Gap junction beta-1 protein) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data, published literature, and structural context.
K48K (p.Lys48Lys) variant details
- p.Lys48Lys
- rs1429274437
- gnomAD X-71223851-A-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.191
- CADD 7.11
- Population evidence available
- Structural context available
- Literature evidence available