Q4E (p.Gln4Glu) variant of KRT3 (Keratin, type II cytoskeletal 3)
Q4E (p.Gln4Glu) in KRT3 (Keratin, type II cytoskeletal 3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and structural context.
Q4E (p.Gln4Glu) variant details
- p.Gln4Glu
- ExAC rs746898698
- gnomAD rs746898698
- Missense
- Variant Prioritization Score for Impact Estimate 0.488
- REVEL 0.46
- CADD 22.80
- PolyPhen-2 0.28
- SIFT 0.00
- Most common in the Middle Eastern population (allele frequency 0.0007)
- Structural context available