F51L (p.Phe51Leu) variant of GJB2 (Gap junction beta-2 protein)
F51L (p.Phe51Leu) in GJB2 (Gap junction beta-2 protein) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data, published literature, and structural context.
F51L (p.Phe51Leu) variant details
- p.Phe51Leu
- gnomAD 13-20189428-CA-C
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.132
- CADD 7.25
- Population evidence available
- Structural context available
- Literature evidence available