A63E (p.Ala63Glu) variant of F11 (Coagulation factor XI)
A63E (p.Ala63Glu) in F11 (Coagulation factor XI) is a missense change. Clinical records from EBI and UniProt describe it as likely pathogenic in the context of in FA11D. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
A63E (p.Ala63Glu) variant details
- p.Ala63Glu
- ExAC rs281875244
- TOPMed rs281875244
- gnomAD rs281875244
- Likely pathogenic
- in FA11D
- Missense
- Variant Prioritization Score for Impact Estimate 0.309
- REVEL 0.30
- ESM-1b 0.00
- AlphaMissense 0.13
- MetaLR 0.57
- MetaSVM -0.25
- CADD 8.41
- EBI: Likely pathogenic (in FA11D)
- UniProt: Likely pathogenic (in FA11D)
- Population evidence available
- Structural context available