M272R (p.Met272Arg) variant of KRT14 (Keratin, type I cytoskeletal 14)
M272R (p.Met272Arg) 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, Koebner type. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes published literature and structural context.
M272R (p.Met272Arg) variant details
- p.Met272Arg
- rs61371557
- ClinGen CA216982
- ClinVar RCV000015721
- ClinVar RCV000056753
- Pathogenic
- Epidermolysis bullosa simplex, Koebner type
- Missense
- Variant Prioritization Score for Impact Estimate 0.845
- AlphaMissense 0.98
- MetaLR 0.83
- MetaSVM 0.97
- PolyPhen-2 0.99
- SIFT 0.00
- EVE 0.69
- ClinVar: Pathogenic (Epidermolysis bullosa simplex, Koebner type)
- EBI: Pathogenic (in EBS1B and EBS1A)
- UniProt: Pathogenic (in EBS1B and EBS1A)
- Structural context available
- Cited in: Mutations in KRT5 and KRT14 cause epidermolysis bullosa simplex in 75% of the patients. (PMID 21375516)
- Cited in: Epidermolysis bullosa: evidence for linkage to genetic markers on chromosome 1 in a family with the autosomal dominant… (PMID 2365356)