G128S (p.Gly128Ser) variant of KRT1 (Keratin, type II cytoskeletal 1)
G128S (p.Gly128Ser) in KRT1 (Keratin, type II cytoskeletal 1) is a missense change. Clinical records from ClinVar, EBI, 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 0.34 / 1. The record also includes population frequency data and structural context.
G128S (p.Gly128Ser) variant details
- p.Gly128Ser
- 1000Genomes rs573159240
- TOPMed rs573159240
- gnomAD rs573159240
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.344
- REVEL 0.30
- CADD 15.20
- PolyPhen-2 0.08
- SIFT 0.12
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available