C104F (p.Cys104Phe) variant of KRT4 (Keratin, type II cytoskeletal 4)
C104F (p.Cys104Phe) in KRT4 (Keratin, type II cytoskeletal 4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data and structural context.
C104F (p.Cys104Phe) variant details
- p.Cys104Phe
- ExAC rs757613926
- TOPMed rs757613926
- gnomAD rs757613926
- Missense
- Variant Prioritization Score for Impact Estimate 0.568
- REVEL 0.42
- CADD 23.70
- PolyPhen-2 1.00
- SIFT 0.02
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available