G89S (p.Gly89Ser) variant of KRT14 (Keratin, type I cytoskeletal 14)
G89S (p.Gly89Ser) in KRT14 (Keratin, type I cytoskeletal 14) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
G89S (p.Gly89Ser) variant details
- p.Gly89Ser
- gnomAD rs1325417504
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.36
- REVEL 0.38
- CADD 19.70
- PolyPhen-2 0.96
- SIFT 0.22
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 1.9e-05)
- Structural context available