G126C (p.Gly126Cys) variant of KRT1 (Keratin, type II cytoskeletal 1)
G126C (p.Gly126Cys) 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 0.40 / 1. The record also includes population frequency data and structural context.
G126C (p.Gly126Cys) variant details
- p.Gly126Cys
- rs763145084
- ExAC rs763145084
- TOPMed rs763145084
- gnomAD rs763145084
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.398
- REVEL 0.47
- CADD 22.40
- PolyPhen-2 0.83
- SIFT 0.02
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available