K22K (p.Lys22Lys) variant of GJB2 (Gap junction beta-2 protein)
K22K (p.Lys22Lys) in GJB2 (Gap junction beta-2 protein) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
K22K (p.Lys22Lys) variant details
- p.Lys22Lys
- rs879253741
- gnomAD 13-20189516-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.403
- AlphaMissense 0.97
- MetaLR 0.97
- MetaSVM 1.10
- CADD 1.09
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 8.1e-06)
- Structural context available
- Literature evidence available