G98E (p.Gly98Glu) variant of KRT5 (Keratin, type II cytoskeletal 5)
G98E (p.Gly98Glu) in KRT5 (Keratin, type II cytoskeletal 5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data and structural context.
G98E (p.Gly98Glu) variant details
- p.Gly98Glu
- 1000Genomes rs534913364
- ExAC rs534913364
- TOPMed rs534913364
- gnomAD rs534913364
- Missense
- Variant Prioritization Score for Impact Estimate 0.552
- REVEL 0.52
- CADD 24.50
- PolyPhen-2 0.73
- SIFT 0.01
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available