F18I (p.Phe18Ile) variant of KRT6B (Keratin, type II cytoskeletal 6B)
F18I (p.Phe18Ile) in KRT6B (Keratin, type II cytoskeletal 6B) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
F18I (p.Phe18Ile) variant details
- p.Phe18Ile
- ExAC rs751372178
- gnomAD rs751372178
- Missense
- Variant Prioritization Score for Impact Estimate 0.448
- REVEL 0.45
- CADD 24.10
- PolyPhen-2 0.65
- SIFT 0.01
- Most common in the 1KG:MXL population (allele frequency 0.0081)
- Structural context available