H9R (p.His9Arg) variant of F11 (Coagulation factor XI)
H9R (p.His9Arg) in F11 (Coagulation factor XI) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of F11-related disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and structural context.
H9R (p.His9Arg) variant details
- p.His9Arg
- rs774676239
- ClinGen CA3163537
- ClinVar RCV003961647
- ExAC rs774676239
- Uncertain significance
- F11-related disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.426
- AlphaMissense 0.09
- MetaLR 0.59
- MetaSVM -0.27
- PolyPhen-2 0.17
- SIFT 0.01
- EVE 0.13
- ClinVar: Uncertain significance (F11-related disorder)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available