L6F (p.Leu6Phe) variant of GJB1 (Gap junction beta-1 protein)
L6F (p.Leu6Phe) in GJB1 (Gap junction beta-1 protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data and structural context.
L6F (p.Leu6Phe) variant details
- p.Leu6Phe
- TOPMed rs2092541943
- gnomAD rs2092541943
- Missense
- Variant Prioritization Score for Impact Estimate 0.507
- REVEL 0.55
- CADD 12.40
- PolyPhen-2 0.15
- SIFT 0.35
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)
- Structural context available