F54L (p.Phe54Leu) variant of KRT18 (Keratin, type I cytoskeletal 18)
F54L (p.Phe54Leu) in KRT18 (Keratin, type I cytoskeletal 18) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data and structural context.
F54L (p.Phe54Leu) variant details
- p.Phe54Leu
- ExAC rs750714548
- Missense
- Variant Prioritization Score for Impact Estimate 0.201
- REVEL 0.27
- CADD 6.08
- PolyPhen-2 0.00
- SIFT 0.50
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available