M272K (p.Met272Lys) variant of KRT14 (Keratin, type I cytoskeletal 14)
M272K (p.Met272Lys) in KRT14 (Keratin, type I cytoskeletal 14) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Epidermolysis bullosa simplex 1A, generalized severe. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes published literature and structural context.
M272K (p.Met272Lys) variant details
- p.Met272Lys
- rs61371557
- ClinGen CA399477592
- ClinVar RCV003989195
- Likely pathogenic
- Epidermolysis bullosa simplex 1A, generalized severe
- 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: Likely pathogenic (Epidermolysis bullosa simplex 1A, generalized severe)
- EBI: Likely pathogenic (in EBS1B and EBS1C)
- UniProt: Likely pathogenic (in EBS1B and EBS1C)
- Structural context available
- Cited in: Epidermolysis Bullosa Simplex. (PMID 20301543)
- Cited in: Cancer Genetics Risk Assessment and Counseling (PDQ®): Health Professional Version. (PMID 26389258)