R72P (p.Arg72Pro) variant of F11 (Coagulation factor XI)
R72P (p.Arg72Pro) in F11 (Coagulation factor XI) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data and structural context.
R72P (p.Arg72Pro) variant details
- p.Arg72Pro
- 1000Genomes rs567451638
- ExAC rs567451638
- TOPMed rs567451638
- gnomAD rs567451638
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.548
- REVEL 0.55
- ESM-1b 1.00
- AlphaMissense 0.24
- MetaLR 0.63
- MetaSVM -0.16
- CADD 14.49
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Population evidence available
- Structural context available