N177Y (p.Asn177Tyr) variant of KRT5 (Keratin, type II cytoskeletal 5)
N177Y (p.Asn177Tyr) in KRT5 (Keratin, type II cytoskeletal 5) 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 0.90 / 1. The record also includes published literature and structural context.
N177Y (p.Asn177Tyr) variant details
- p.Asn177Tyr
- rs1938679596
- ClinGen CA384928820
- ClinVar RCV001808117
- Ensembl rs1938679596
- Likely pathogenic
- Epidermolysis bullosa simplex 1A, generalized severe
- Missense
- Variant Prioritization Score for Impact Estimate 0.905
- AlphaMissense 0.95
- MetaLR 0.87
- MetaSVM 0.99
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.93
- ClinVar: Likely pathogenic (Epidermolysis bullosa simplex 1A, generalized severe)
- EBI: Likely pathogenic (in EBS2C)
- UniProt: Likely pathogenic (in EBS2C)
- Structural context available
- Cited in: Epidermolysis Bullosa Simplex. (PMID 20301543)
- Cited in: Cancer Genetics Risk Assessment and Counseling (PDQ®): Health Professional Version. (PMID 26389258)