E111D (p.Glu111Asp) variant of KRT4 (Keratin, type II cytoskeletal 4)
E111D (p.Glu111Asp) in KRT4 (Keratin, type II cytoskeletal 4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and structural context.
E111D (p.Glu111Asp) variant details
- p.Glu111Asp
- ExAC rs773070973
- TOPMed rs773070973
- gnomAD rs773070973
- Missense
- Variant Prioritization Score for Impact Estimate 0.428
- REVEL 0.43
- CADD 21.10
- PolyPhen-2 0.49
- SIFT 0.01
- Most common in the African/African-American population (allele frequency 0.00031)
- Structural context available