L175F (p.Leu175Phe) variant of KRT5 (Keratin, type II cytoskeletal 5)
L175F (p.Leu175Phe) in KRT5 (Keratin, type II cytoskeletal 5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Epidermolysis bullosa simplex 2A, generalized severe. The available variant effect predictions contribute to a CATVariant prioritization score of 0.96 / 1. The record also includes published literature and structural context.
L175F (p.Leu175Phe) variant details
- p.Leu175Phe
- rs57890479
- ClinGen CA216739
- ClinVar RCV000056608
- ClinVar RCV001731188
- Pathogenic
- Epidermolysis bullosa simplex 2A, generalized severe
- Missense
- Variant Prioritization Score for Impact Estimate 0.964
- AlphaMissense 1.00
- MetaLR 0.96
- MetaSVM 1.09
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.92
- ClinVar: Pathogenic (Epidermolysis bullosa simplex 2A, generalized severe)
- EBI: Pathogenic (in EBS2A)
- UniProt: Pathogenic (in EBS2A)
- Structural context available
- Cited in: A novel keratin K5 gene mutation in Dowling-Meara epidermolysis bullosa simplex. (PMID 8757772)
- Cited in: Epidermolysis Bullosa Simplex. (PMID 20301543)