M1I (p.Met1Ile) variant of F11 (Coagulation factor XI)
M1I (p.Met1Ile) in F11 (Coagulation factor XI) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of F11-related disorder; Plasma factor XI deficiency; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data and structural context.
M1I (p.Met1Ile) variant details
- p.Met1Ile
- rs755700350
- ClinGen CA112146686
- ClinVar RCV000595418
- ClinVar RCV002497250
- Pathogenic/Likely pathogenic
- F11-related disorder; Plasma factor XI deficiency; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.768
- ESM-1b 1.00
- AlphaMissense 0.39
- MetaLR 0.86
- MetaSVM 0.85
- CADD 23.60
- PolyPhen-2 0.97
- ClinVar: Pathogenic/Likely pathogenic (F11-related disorder; Plasma factor XI deficiency; not provided)
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available