K2309T (p.Lys2309Thr) variant of COL7A1 (Collagen alpha-1(VII) chain)
K2309T (p.Lys2309Thr) 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. The record also includes variant effect predictions and published literature.
K2309T (p.Lys2309Thr) variant details
- p.Lys2309Thr
- rs2107657132
- ClinGen CA352652902
- ClinVar RCV002277046
- Ensembl rs2107657132
- Likely pathogenic
- Recessive dystrophic epidermolysis bullosa
- Missense
- AlphaMissense 0.35
- MetaLR 0.92
- MetaSVM 0.98
- PolyPhen-2 1.00
- SIFT 0.03
- EVE 0.64
- ClinVar: Likely pathogenic (Recessive dystrophic epidermolysis bullosa)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Cited in: Dystrophic Epidermolysis Bullosa. (PMID 20301481)