L463P (p.Leu463Pro) variant of KRT5 (Keratin, type II cytoskeletal 5)
L463P (p.Leu463Pro) 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 not provided; Epidermolysis bullosa simplex. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data, published literature, and structural context.
L463P (p.Leu463Pro) variant details
- p.Leu463Pro
- rs57599352
- ClinGen CA216658
- ClinVar RCV000056553
- ClinVar RCV001352783
- Pathogenic
- not provided; Epidermolysis bullosa simplex
- Missense
- Variant Prioritization Score for Impact Estimate 0.807
- REVEL 0.99
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (not provided; Epidermolysis bullosa simplex)
- EBI: Pathogenic (in EBS2B)
- UniProt: Pathogenic (in EBS2B)
- Most common in the Finnish in Finland (FIN) population (allele frequency 1.9e-05)
- Structural context available
- Cited in: Mapping of epidermolysis bullosa simplex mutation to chromosome 12. (PMID 1718160)
- Cited in: Two novel recessive mutations in KRT14 identified in a cohort of 21 Spanish families with epidermolysis bullosa simplex. (PMID 21623745)