C63S (p.Cys63Ser) variant of KRT14 (Keratin, type I cytoskeletal 14)
C63S (p.Cys63Ser) 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 0.14 / 1. The record also includes population frequency data and structural context.
C63S (p.Cys63Ser) variant details
- p.Cys63Ser
- 1000Genomes rs6503640
- ExAC rs6503640
- TOPMed rs6503640
- gnomAD rs6503640
- Benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.143
- REVEL 0.20
- CADD 0.00
- PolyPhen-2 0.00
- SIFT 0.52
- EBI: Benign (in dbSNP:rs6503640)
- UniProt: Benign (in dbSNP:rs6503640)
- Most common in the Non-Finnish European population (allele frequency 7.2e-06)
- Structural context available