G2114V (p.Gly2114Val) variant of COL7A1 (Collagen alpha-1(VII) chain)
G2114V (p.Gly2114Val) 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 not provided; Epidermolysis bullosa dystrophica. The record also includes variant effect predictions, population frequency data, and published literature.
G2114V (p.Gly2114Val) variant details
- p.Gly2114Val
- rs2044175577
- ClinGen CA352659576
- NCI-TCGA Cosmic COSV1000
- ClinVar RCV002221419
- Likely pathogenic
- not provided; Epidermolysis bullosa dystrophica
- Missense
- AlphaMissense 0.62
- MetaLR 0.99
- MetaSVM 1.01
- CADD 26.50
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (not provided; Epidermolysis bullosa dystrophica)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Population evidence available
- Cited in: Dystrophic Epidermolysis Bullosa. (PMID 20301481)
- Cited in: Cancer Genetics Risk Assessment and Counseling (PDQ®): Health Professional Version. (PMID 26389258)