C63Y (p.Cys63Tyr) variant of KRT14 (Keratin, type I cytoskeletal 14)
C63Y (p.Cys63Tyr) in KRT14 (Keratin, type I cytoskeletal 14) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign in the context of Epidermolysis bullosa simplex 1A, generalized severe; Dermatopathia pigmentosa r. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data, published literature, and structural context.
C63Y (p.Cys63Tyr) variant details
- p.Cys63Tyr
- rs6503640
- ClinGen CA8562793
- ClinVar RCV002191745
- ClinVar RCV002496123
- Benign
- Epidermolysis bullosa simplex 1A, generalized severe; Dermatopathia pigmentosa r
- Missense
- Variant Prioritization Score for Impact Estimate 0.159
- REVEL 0.24
- CADD 0.00
- PolyPhen-2 0.00
- SIFT 0.29
- ClinVar: Benign (Epidermolysis bullosa simplex 1A, generalized severe; Dermatopat)
- EBI: Benign (in dbSNP:rs6503640)
- UniProt: Benign (in dbSNP:rs6503640)
- Most common in the Finnish in Finland (FIN) population (allele frequency 1)
- Structural context available
- Cited in: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID 15489334)
- Cited in: Complete sequence of a gene encoding a human type I keratin: sequences homologous to enhancer elements in the… (PMID 2580298)