E27V (p.Glu27Val) variant of COL7A1 (Collagen alpha-1(VII) chain)
E27V (p.Glu27Val) 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 Recessive dystrophic epidermolysis bullosa. The record also includes variant effect predictions and published literature.
E27V (p.Glu27Val) variant details
- p.Glu27Val
- rs2107811799
- ClinGen CA352750187
- ClinVar RCV002277071
- Ensembl rs2107811799
- Uncertain significance
- Recessive dystrophic epidermolysis bullosa
- Missense
- AlphaMissense 0.11
- MetaLR 0.39
- MetaSVM -0.56
- PolyPhen-2 0.00
- SIFT 0.01
- MutPred 0.41
- ClinVar: Uncertain significance (Recessive dystrophic epidermolysis bullosa)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Cited in: Dystrophic Epidermolysis Bullosa. (PMID 20301481)