Q5E (p.Gln5Glu) variant of KRT9 (Keratin, type I cytoskeletal 9)
Q5E (p.Gln5Glu) in KRT9 (Keratin, type I cytoskeletal 9) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
Q5E (p.Gln5Glu) variant details
- p.Gln5Glu
- gnomAD rs1186331728
- Missense
- Variant Prioritization Score for Impact Estimate 0.392
- REVEL 0.37
- CADD 22.00
- PolyPhen-2 0.40
- SIFT 0.00
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)
- Structural context available