G110D (p.Gly110Asp) variant of KRT1 (Keratin, type II cytoskeletal 1)
G110D (p.Gly110Asp) in KRT1 (Keratin, type II cytoskeletal 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data and structural context.
G110D (p.Gly110Asp) variant details
- p.Gly110Asp
- TOPMed rs1246220741
- gnomAD rs1246220741
- Missense
- Variant Prioritization Score for Impact Estimate 0.529
- REVEL 0.48
- CADD 22.30
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available