G66C (p.Gly66Cys) variant of KRT9 (Keratin, type I cytoskeletal 9)
G66C (p.Gly66Cys) in KRT9 (Keratin, type I cytoskeletal 9) 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 0.30 / 1. The record also includes population frequency data and structural context.
G66C (p.Gly66Cys) variant details
- p.Gly66Cys
- ExAC rs757250510
- gnomAD rs757250510
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.298
- REVEL 0.25
- CADD 20.60
- PolyPhen-2 0.95
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00041)
- Structural context available