E149K (p.Glu149Lys) variant of KRT13 (Keratin, type I cytoskeletal 13)
E149K (p.Glu149Lys) in KRT13 (Keratin, type I cytoskeletal 13) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. 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.
E149K (p.Glu149Lys) variant details
- p.Glu149Lys
- NCI-TCGA TCGA novel
- TOPMed rs1905012017
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.429
- REVEL 0.31
- CADD 16.00
- PolyPhen-2 0.33
- SIFT 0.68
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available