C7G (p.Cys7Gly) variant of KRT4 (Keratin, type II cytoskeletal 4)
C7G (p.Cys7Gly) in KRT4 (Keratin, type II cytoskeletal 4) is a missense change. Clinical records from ClinVar and UniProt describe it as likely benign in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.05 / 1. The record also includes population frequency data and structural context.
C7G (p.Cys7Gly) variant details
- p.Cys7Gly
- ExAC rs765638457
- gnomAD rs765638457
- Likely benign
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.045
- REVEL 0.03
- CADD 0.06
- PolyPhen-2 0.00
- SIFT 0.62
- ClinVar: Likely benign (Inborn genetic diseases)
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available