G48S (p.Gly48Ser) variant of KRT8 (Keratin, type II cytoskeletal 8)
G48S (p.Gly48Ser) in KRT8 (Keratin, type II cytoskeletal 8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data.
G48S (p.Gly48Ser) variant details
- p.Gly48Ser
- ExAC rs765478121
- TOPMed rs765478121
- gnomAD rs765478121
- Missense
- Variant Prioritization Score for Impact Estimate 0.0754
- CADD 2.59
- PolyPhen-2 0.09
- SIFT 0.19
- Most common in the Middle Eastern population (allele frequency 0.0007)