G95E (p.Gly95Glu) variant of KRT12 (Keratin, type I cytoskeletal 12)
G95E (p.Gly95Glu) in KRT12 (Keratin, type I cytoskeletal 12) is a missense change. 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.
G95E (p.Gly95Glu) variant details
- p.Gly95Glu
- gnomAD rs1466249729
- Missense
- Variant Prioritization Score for Impact Estimate 0.403
- REVEL 0.38
- CADD 22.10
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00019)
- Structural context available