L408Q (p.Leu408Gln) variant of KRT14 (Keratin, type I cytoskeletal 14)
L408Q (p.Leu408Gln) in KRT14 (Keratin, type I cytoskeletal 14) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Epidermolysis bullosa simplex. The available variant effect predictions contribute to a CATVariant prioritization score of 0.96 / 1. The record also includes published literature and structural context.
L408Q (p.Leu408Gln) variant details
- p.Leu408Gln
- rs1907400034
- ClinGen CA399475430
- ClinVar RCV001352832
- Ensembl rs1907400034
- Pathogenic
- Epidermolysis bullosa simplex
- Missense
- Variant Prioritization Score for Impact Estimate 0.955
- AlphaMissense 1.00
- MetaLR 0.96
- MetaSVM 1.09
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.89
- ClinVar: Pathogenic (Epidermolysis bullosa simplex)
- EBI: Pathogenic (in EBS1C)
- UniProt: Pathogenic (in EBS1C)
- Structural context available
- Cited in: Epidermolysis Bullosa Simplex. (PMID 20301543)