R55L (p.Arg55Leu) variant of KRT16 (Keratin, type I cytoskeletal 16)
R55L (p.Arg55Leu) in KRT16 (Keratin, type I cytoskeletal 16) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data and structural context.
R55L (p.Arg55Leu) variant details
- p.Arg55Leu
- TOPMed rs1445424962
- gnomAD rs1445424962
- Missense
- Variant Prioritization Score for Impact Estimate 0.554
- REVEL 0.59
- CADD 23.30
- PolyPhen-2 0.79
- SIFT 0.15
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00019)
- Structural context available