H145R (p.His145Arg) variant of F11 (Coagulation factor XI)
H145R (p.His145Arg) in F11 (Coagulation factor XI) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; Hereditary factor XI deficiency disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
H145R (p.His145Arg) variant details
- p.His145Arg
- rs199657604
- ClinVar RCV004791156
- ClinVar RCV004796893
- 1000Genomes rs199657604
- Conflicting interpretations
- not provided; Hereditary factor XI deficiency disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.38
- REVEL 0.41
- ESM-1b 0.00
- AlphaMissense 0.08
- MetaLR 0.48
- MetaSVM -0.26
- CADD 14.58
- ClinVar: Conflicting classifications of pathogenicity (not provided; Hereditary factor XI deficiency disease)
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available