N329K (p.Asn329Lys) variant of KRT5 (Keratin, type II cytoskeletal 5)
N329K (p.Asn329Lys) 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 not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
N329K (p.Asn329Lys) variant details
- p.Asn329Lys
- rs59730172
- ClinGen CA216810
- ClinVar RCV000056657
- ClinVar RCV001731293
- Pathogenic
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.527
- REVEL 0.61
- CADD 26.30
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (not provided)
- EBI: Pathogenic (in EBS2C)
- UniProt: Pathogenic (in EBS2C)
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available
- Cited in: Mutations in KRT5 and KRT14 cause epidermolysis bullosa simplex in 75% of the patients. (PMID 21375516)
- Cited in: Mutations in the non-helical linker segment L1-2 of keratin 5 in patients with Weber-Cockayne epidermolysis bullosa… (PMID 7520042)