F56L (p.Phe56Leu) variant of KRT6B (Keratin, type II cytoskeletal 6B)
F56L (p.Phe56Leu) in KRT6B (Keratin, type II cytoskeletal 6B) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data and structural context.
F56L (p.Phe56Leu) variant details
- p.Phe56Leu
- ExAC rs770002769
- gnomAD rs770002769
- Missense
- Variant Prioritization Score for Impact Estimate 0.496
- REVEL 0.53
- CADD 25.70
- PolyPhen-2 0.45
- SIFT 0.01
- Most common in the Middle Eastern population (allele frequency 0.0007)
- Structural context available