H145P (p.His145Pro) variant of F11 (Coagulation factor XI)
H145P (p.His145Pro) 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 0.60 / 1. The record also includes structural context.
H145P (p.His145Pro) variant details
- p.His145Pro
- rs199657604
- ClinGen CA358958635
- ClinVar RCV003990659
- Likely pathogenic
- Hereditary factor XI deficiency disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.605
- REVEL 0.69
- ESM-1b 1.00
- AlphaMissense 0.27
- MetaLR 0.48
- MetaSVM -0.26
- CADD 14.58
- ClinVar: Likely pathogenic (Hereditary factor XI deficiency disease)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available