G2575W (p.Gly2575Trp) variant of COL7A1 (Collagen alpha-1(VII) chain)
G2575W (p.Gly2575Trp) in COL7A1 (Collagen alpha-1(VII) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Recessive dystrophic epidermolysis bullosa; not provided; Nonsyndromic congenita. The record also includes variant effect predictions, population frequency data, and published literature.
G2575W (p.Gly2575Trp) variant details
- p.Gly2575Trp
- rs760891216
- ClinGen CA352643069
- ClinVar RCV003669039
- ClinVar RCV004579622
- Likely pathogenic
- Recessive dystrophic epidermolysis bullosa; not provided; Nonsyndromic congenita
- Missense
- CADD 23.80
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Recessive dystrophic epidermolysis bullosa; not provided; Nonsyn)
- EBI: Likely pathogenic (in RDEB)
- UniProt: Likely pathogenic (in RDEB)
- Most common in the Latino/Admixed American population (allele frequency 2.5e-05)
- Cited in: Dystrophic Epidermolysis Bullosa. (PMID 20301481)