I21L (p.Ile21Leu) variant of KRT4 (Keratin, type II cytoskeletal 4)
I21L (p.Ile21Leu) in KRT4 (Keratin, type II cytoskeletal 4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data and structural context.
I21L (p.Ile21Leu) variant details
- p.Ile21Leu
- ExAC rs764171478
- gnomAD rs764171478
- Missense
- Variant Prioritization Score for Impact Estimate 0.0913
- REVEL 0.12
- CADD 0.13
- PolyPhen-2 0.01
- SIFT 0.06
- Population evidence available
- Structural context available