I46L (p.Ile46Leu) variant of KRT18 (Keratin, type I cytoskeletal 18)
I46L (p.Ile46Leu) in KRT18 (Keratin, type I cytoskeletal 18) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
I46L (p.Ile46Leu) variant details
- p.Ile46Leu
- ExAC rs760412718
- gnomAD rs760412718
- Missense
- Variant Prioritization Score for Impact Estimate 0.362
- REVEL 0.41
- CADD 21.10
- PolyPhen-2 0.11
- SIFT 0.02
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available