E125Q (p.Glu125Gln) variant of KRT12 (Keratin, type I cytoskeletal 12)
E125Q (p.Glu125Gln) in KRT12 (Keratin, type I cytoskeletal 12) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data and structural context.
E125Q (p.Glu125Gln) variant details
- p.Glu125Gln
- ExAC rs765346056
- gnomAD rs765346056
- Missense
- Variant Prioritization Score for Impact Estimate 0.769
- REVEL 0.77
- CADD 23.60
- PolyPhen-2 0.98
- SIFT 0.00
- Most common in the Middle Eastern population (allele frequency 0.0007)
- Structural context available