R2424W (p.Arg2424Trp) variant of COL7A1 (Collagen alpha-1(VII) chain)
R2424W (p.Arg2424Trp) 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; Dominant dystrophic epidermolysis bullosa wit. The record also includes variant effect predictions, population frequency data, and published literature.
R2424W (p.Arg2424Trp) variant details
- p.Arg2424Trp
- rs1189942401
- ClinGen CA352649756
- NCI-TCGA Cosmic COSV6039
- ClinVar RCV001352858
- Pathogenic
- Epidermolysis bullosa dystrophica; Dominant dystrophic epidermolysis bullosa wit
- Missense
- CADD 33.00
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Pathogenic (Epidermolysis bullosa dystrophica; Dominant dystrophic epidermol)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the East Asian population (allele frequency 2.5e-05)
- Cited in: Dystrophic Epidermolysis Bullosa. (PMID 20301481)
- Cited in: Cancer Genetics Risk Assessment and Counseling (PDQ®): Health Professional Version. (PMID 26389258)