E111K (p.Glu111Lys) variant of KRT4 (Keratin, type II cytoskeletal 4)
E111K (p.Glu111Lys) 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.
E111K (p.Glu111Lys) variant details
- p.Glu111Lys
- Ensembl rs1939953544
- Missense
- Variant Prioritization Score for Impact Estimate 0.435
- REVEL 0.41
- CADD 22.70
- PolyPhen-2 0.06
- SIFT 0.00
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available