R56S (p.Arg56Ser) variant of KRT14 (Keratin, type I cytoskeletal 14)
R56S (p.Arg56Ser) in KRT14 (Keratin, type I cytoskeletal 14) is a missense change. Clinical records from EBI and UniProt describe it as benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data and structural context.
R56S (p.Arg56Ser) variant details
- p.Arg56Ser
- 1000Genomes rs117484558
- ESP rs117484558
- ExAC rs117484558
- TOPMed rs117484558
- Benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.535
- REVEL 0.42
- CADD 19.80
- PolyPhen-2 0.00
- SIFT 0.25
- EBI: Benign
- UniProt: Benign
- Population evidence available
- Structural context available