F94L (p.Phe94Leu) variant of KRT16 (Keratin, type I cytoskeletal 16)
F94L (p.Phe94Leu) in KRT16 (Keratin, type I cytoskeletal 16) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data and structural context.
F94L (p.Phe94Leu) variant details
- p.Phe94Leu
- 1000Genomes rs570977410
- ExAC rs570977410
- TOPMed rs570977410
- gnomAD rs570977410
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.15
- REVEL 0.21
- CADD 0.00
- PolyPhen-2 0.00
- SIFT 0.72
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available