L10W (p.Leu10Trp) variant of GJB2 (Gap junction beta-2 protein)
L10W (p.Leu10Trp) in GJB2 (Gap junction beta-2 protein) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
L10W (p.Leu10Trp) variant details
- p.Leu10Trp
- rs1441862662
- gnomAD 13-20189553-AG-A
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.507
- CADD 21.50
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available
- Literature evidence available