G110E (p.Gly110Glu) variant of KRT5 (Keratin, type II cytoskeletal 5)
G110E (p.Gly110Glu) in KRT5 (Keratin, type II cytoskeletal 5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data and structural context.
G110E (p.Gly110Glu) variant details
- p.Gly110Glu
- gnomAD rs1938686018
- Missense
- Variant Prioritization Score for Impact Estimate 0.503
- REVEL 0.44
- CADD 25.50
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available