C40F (p.Cys40Phe) variant of KRT16 (Keratin, type I cytoskeletal 16)
C40F (p.Cys40Phe) in KRT16 (Keratin, type I cytoskeletal 16) 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.
C40F (p.Cys40Phe) variant details
- p.Cys40Phe
- TOPMed rs1908245678
- Missense
- Variant Prioritization Score for Impact Estimate 0.181
- REVEL 0.13
- CADD 16.10
- PolyPhen-2 0.03
- SIFT 0.07
- Population evidence available
- Structural context available