E27G (p.Glu27Gly) variant of COL7A1 (Collagen alpha-1(VII) chain)
E27G (p.Glu27Gly) in COL7A1 (Collagen alpha-1(VII) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Generalized dominant dystrophic epidermolysis bullosa; not specified; not provid. The record also includes variant effect predictions, population frequency data, and published literature.
E27G (p.Glu27Gly) variant details
- p.Glu27Gly
- rs2107811799
- ClinGen CA352750189
- ClinVar RCV002004429
- ClinVar RCV004785450
- Uncertain significance
- Generalized dominant dystrophic epidermolysis bullosa; not specified; not provid
- Missense
- AlphaMissense 0.11
- MetaLR 0.39
- MetaSVM -0.56
- CADD 23.80
- PolyPhen-2 0.00
- SIFT 0.01
- ClinVar: Uncertain significance (Generalized dominant dystrophic epidermolysis bullosa; not speci)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.3e-05)
- Cited in: Dystrophic Epidermolysis Bullosa. (PMID 20301481)