I20K (p.Ile20Lys) variant of GJB2 (Gap junction beta-2 protein)
I20K (p.Ile20Lys) in GJB2 (Gap junction beta-2 protein) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
I20K (p.Ile20Lys) variant details
- p.Ile20Lys
- gnomAD 13-20189519-TCCAA
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.29
- CADD 29.50
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available