K2562N (p.Lys2562Asn) variant of COL7A1 (Collagen alpha-1(VII) chain)
K2562N (p.Lys2562Asn) in COL7A1 (Collagen alpha-1(VII) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Epidermolysis bullosa dystrophica. The record also includes variant effect predictions, population frequency data, and published literature.
K2562N (p.Lys2562Asn) variant details
- p.Lys2562Asn
- rs2043771421
- ClinGen CA352643552
- ClinVar RCV001352866
- Ensembl rs2043771421
- Pathogenic
- Epidermolysis bullosa dystrophica
- Missense
- CADD 35.00
- PolyPhen-2 0.97
- SIFT 0.01
- ClinVar: Pathogenic (Epidermolysis bullosa dystrophica)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Cited in: Dystrophic Epidermolysis Bullosa. (PMID 20301481)
- Cited in: Cancer Genetics Risk Assessment and Counseling (PDQ®): Health Professional Version. (PMID 26389258)