M1K (p.Met1Lys) variant of F11 (Coagulation factor XI)
M1K (p.Met1Lys) in F11 (Coagulation factor XI) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Hereditary factor XI deficiency disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes structural context.
M1K (p.Met1Lys) variant details
- p.Met1Lys
- rs1554081281
- ClinGen CA358957224
- ClinVar RCV000668218
- Likely pathogenic
- Hereditary factor XI deficiency disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.787
- REVEL 0.80
- ESM-1b 1.00
- AlphaMissense 0.49
- MetaLR 0.84
- MetaSVM 0.70
- CADD 23.90
- ClinVar: Likely pathogenic (Hereditary factor XI deficiency disease)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available