S17F (p.Ser17Phe) variant of KRT14 (Keratin, type I cytoskeletal 14)
S17F (p.Ser17Phe) in KRT14 (Keratin, type I cytoskeletal 14) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
S17F (p.Ser17Phe) variant details
- p.Ser17Phe
- TOPMed rs1457403673
- gnomAD rs1457403673
- Missense
- Variant Prioritization Score for Impact Estimate 0.387
- REVEL 0.22
- CADD 22.10
- PolyPhen-2 0.00
- SIFT 0.71
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available