I46I (p.Ile46Ile) variant of KRT18 (Keratin, type I cytoskeletal 18)
I46I (p.Ile46Ile) in KRT18 (Keratin, type I cytoskeletal 18) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
I46I (p.Ile46Ile) variant details
- p.Ile46Ile
- gnomAD 12-52949311-C-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.445
- CADD 12.70
- Population evidence available
- Structural context available
- Literature evidence available