M1T (p.Met1Thr) variant of F7 (Coagulation factor VII)
M1T (p.Met1Thr) in F7 (Coagulation factor VII) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes variant effect predictions, population frequency data, and structural context.
M1T (p.Met1Thr) variant details
- p.Met1Thr
- rs766294997
- ClinGen CA7059799
- ClinVar RCV003482110
- Pathogenic
- Missense
- MetaLR 0.63
- MetaSVM -0.11
- PolyPhen-2 0.94
- SIFT 0.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available