F100L (p.Phe100Leu) variant of KRT14 (Keratin, type I cytoskeletal 14)
F100L (p.Phe100Leu) in KRT14 (Keratin, type I cytoskeletal 14) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data and structural context.
F100L (p.Phe100Leu) variant details
- p.Phe100Leu
- ExAC rs751018324
- gnomAD rs751018324
- Missense
- Variant Prioritization Score for Impact Estimate 0.18
- REVEL 0.27
- CADD 0.00
- PolyPhen-2 0.00
- SIFT 0.41
- Most common in the Non-Finnish European population (allele frequency 2.3e-05)
- Structural context available