R2745Q (p.Arg2745Gln) variant of COL7A1 (Collagen alpha-1(VII) chain)
R2745Q (p.Arg2745Gln) 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 Pretibial dystrophic epidermolysis bullosa; Dominant dystrophic epidermolysis bu. The record also includes variant effect predictions, population frequency data, and published literature.
R2745Q (p.Arg2745Gln) variant details
- p.Arg2745Gln
- rs377182638
- ClinGen CA2378111
- ClinVar RCV000993563
- ClinVar RCV001278912
- Likely pathogenic
- Pretibial dystrophic epidermolysis bullosa; Dominant dystrophic epidermolysis bu
- Missense
- CADD 28.40
- PolyPhen-2 1.00
- SIFT 0.03
- ClinVar: Likely pathogenic (Pretibial dystrophic epidermolysis bullosa; Dominant dystrophic)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the South Asian population (allele frequency 0.00041)
- Cited in: Dystrophic Epidermolysis Bullosa. (PMID 20301481)