G71C (p.Gly71Cys) variant of KRT12 (Keratin, type I cytoskeletal 12)
G71C (p.Gly71Cys) in KRT12 (Keratin, type I cytoskeletal 12) 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 0.36 / 1. The record also includes population frequency data and structural context.
G71C (p.Gly71Cys) variant details
- p.Gly71Cys
- TOPMed rs1176336411
- gnomAD rs1176336411
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.362
- REVEL 0.31
- CADD 23.30
- PolyPhen-2 0.82
- SIFT 0.01
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available