C18S (p.Cys18Ser) variant of KRT14 (Keratin, type I cytoskeletal 14)
C18S (p.Cys18Ser) in KRT14 (Keratin, type I cytoskeletal 14) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and structural context.
C18S (p.Cys18Ser) variant details
- p.Cys18Ser
- gnomAD rs1159749209
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.206
- REVEL 0.16
- CADD 18.20
- PolyPhen-2 0.00
- SIFT 0.24
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available