M1V (p.Met1Val) variant of COL7A1 (Collagen alpha-1(VII) chain)
M1V (p.Met1Val) in COL7A1 (Collagen alpha-1(VII) chain) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes variant effect predictions and published literature.
M1V (p.Met1Val) variant details
- p.Met1Val
- rs1064797078
- ClinGen CA16621531
- ClinVar RCV000487444
- ClinVar RCV000579087
- Pathogenic
- Missense
- MetaLR 0.36
- MetaSVM -0.32
- PolyPhen-2 0.78
- SIFT 0.00
- MutPred 0.90
- EBI: Pathogenic
- UniProt: Pathogenic
- Cited in: Dystrophic Epidermolysis Bullosa. (PMID 20301481)