C63F (p.Cys63Phe) variant of KRT14 (Keratin, type I cytoskeletal 14)
C63F (p.Cys63Phe) 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 0.15 / 1. The record also includes population frequency data and structural context.
C63F (p.Cys63Phe) variant details
- p.Cys63Phe
- 1000Genomes rs6503640
- ExAC rs6503640
- TOPMed rs6503640
- gnomAD rs6503640
- Benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.149
- REVEL 0.22
- CADD 0.00
- PolyPhen-2 0.01
- SIFT 0.26
- EBI: Benign (in dbSNP:rs6503640)
- UniProt: Benign (in dbSNP:rs6503640)
- Population evidence available
- Structural context available