C40F (p.Cys40Phe) variant of KRT14 (Keratin, type I cytoskeletal 14)
C40F (p.Cys40Phe) in KRT14 (Keratin, type I cytoskeletal 14) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
C40F (p.Cys40Phe) variant details
- p.Cys40Phe
- TOPMed rs1354476154
- gnomAD rs1354476154
- Missense
- Variant Prioritization Score for Impact Estimate 0.303
- REVEL 0.19
- CADD 15.70
- PolyPhen-2 0.00
- SIFT 0.16
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available