E104K (p.Glu104Lys) variant of KRT13 (Keratin, type I cytoskeletal 13)
E104K (p.Glu104Lys) in KRT13 (Keratin, type I cytoskeletal 13) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes population frequency data and structural context.
E104K (p.Glu104Lys) variant details
- p.Glu104Lys
- gnomAD rs1306847389
- Missense
- Variant Prioritization Score for Impact Estimate 0.878
- REVEL 0.93
- CADD 28.40
- PolyPhen-2 0.98
- SIFT 0.02
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available