M272T (p.Met272Thr) variant of KRT14 (Keratin, type I cytoskeletal 14)
M272T (p.Met272Thr) 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 not provided; Epidermolysis bullosa simplex; Epidermolysis bullosa simplex 1D, g. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes published literature and structural context.
M272T (p.Met272Thr) variant details
- p.Met272Thr
- rs61371557
- ClinGen CA216980
- ClinVar RCV000056752
- ClinVar RCV003993782
- Pathogenic
- not provided; Epidermolysis bullosa simplex; Epidermolysis bullosa simplex 1D, g
- 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 (not provided; Epidermolysis bullosa simplex; Epidermolysis bullo)
- EBI: Pathogenic (in EBS1B and EBS1C)
- UniProt: Pathogenic (in EBS1B and EBS1C)
- Structural context available
- Cited in: Novel and recurrent mutations in keratin KRT5 and KRT14 genes in epidermolysis bullosa simplex: implications for… (PMID 16786515)
- Cited in: Novel sporadic and recurrent mutations in KRT5 and KRT14 genes in Polish epidermolysis bullosa simplex patients… (PMID 26432462)