K199M (p.Lys199Met) variant of KRT5 (Keratin, type II cytoskeletal 5)
K199M (p.Lys199Met) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.95 / 1. The record also includes published literature and structural context.
K199M (p.Lys199Met) variant details
- p.Lys199Met
- rs58766676
- ClinGen CA216786
- ClinVar RCV000056640
- ClinVar RCV001823714
- Pathogenic
- Epidermolysis bullosa
- Missense
- Variant Prioritization Score for Impact Estimate 0.954
- AlphaMissense 0.99
- MetaLR 0.92
- MetaSVM 1.09
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.98
- ClinVar: Pathogenic (Epidermolysis bullosa)
- EBI: Pathogenic (in EBS2C)
- UniProt: Pathogenic (in EBS2C)
- Structural context available
- Cited in: Mutations in KRT5 and KRT14 cause epidermolysis bullosa simplex in 75% of the patients. (PMID 21375516)
- Cited in: Cancer Genetics Risk Assessment and Counseling (PDQ®): Health Professional Version. (PMID 26389258)