G118* (p.Gly118Ter) variant of KRT12 (Keratin, type I cytoskeletal 12)
G118* (p.Gly118Ter) in KRT12 (Keratin, type I cytoskeletal 12) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data and structural context.
G118* (p.Gly118Ter) variant details
- p.Gly118Ter
- gnomAD rs1297258501
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.737
- CADD 34.00
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00091)
- Structural context available