Q115E (p.Gln115Glu) variant of KRT8 (Keratin, type II cytoskeletal 8)
Q115E (p.Gln115Glu) in KRT8 (Keratin, type II cytoskeletal 8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data.
Q115E (p.Gln115Glu) variant details
- p.Gln115Glu
- gnomAD rs1384365095
- Missense
- Variant Prioritization Score for Impact Estimate 0.746
- CADD 24.40
- PolyPhen-2 0.40
- SIFT 0.01
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)