R55P (p.Arg55Pro) variant of KRT16 (Keratin, type I cytoskeletal 16)
R55P (p.Arg55Pro) in KRT16 (Keratin, type I cytoskeletal 16) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data and structural context.
R55P (p.Arg55Pro) variant details
- p.Arg55Pro
- TOPMed rs1445424962
- gnomAD rs1445424962
- Missense
- Variant Prioritization Score for Impact Estimate 0.542
- REVEL 0.57
- CADD 23.40
- PolyPhen-2 0.93
- SIFT 0.27
- Most common in the 1KG:MSL population (allele frequency 0.013)
- Structural context available