I46F (p.Ile46Phe) variant of KRT18 (Keratin, type I cytoskeletal 18)
I46F (p.Ile46Phe) in KRT18 (Keratin, type I cytoskeletal 18) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
I46F (p.Ile46Phe) variant details
- p.Ile46Phe
- ExAC rs760412718
- gnomAD rs760412718
- Missense
- Variant Prioritization Score for Impact Estimate 0.398
- REVEL 0.45
- CADD 23.30
- PolyPhen-2 0.60
- SIFT 0.00
- Most common in the 1KG:MSL population (allele frequency 0.013)
- Structural context available