E435K (p.Glu435Lys) variant of KRT4 (Keratin, type II cytoskeletal 4)
E435K (p.Glu435Lys) in KRT4 (Keratin, type II cytoskeletal 4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of White sponge nevus 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.94 / 1. The record also includes published literature and structural context.
E435K (p.Glu435Lys) variant details
- p.Glu435Lys
- rs62642055
- ClinGen CA126972
- ClinVar RCV000018422
- UniProt VAR 016038
- Pathogenic
- White sponge nevus 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.935
- AlphaMissense 0.84
- MetaLR 0.96
- MetaSVM 1.09
- SIFT 0.00
- ClinVar: Pathogenic (White sponge nevus 1)
- EBI: Pathogenic (in WSN1)
- UniProt: Pathogenic (in WSN1)
- Structural context available
- Cited in: A novel mutation in the keratin 4 gene causing white sponge naevus. (PMID 12828738)
- Cited in: A glutamine insertion in the 1A alpha helical domain of the keratin 4 gene in a familial case of white sponge nevus. (PMID 10652003)