R326H (p.Arg326His) variant of F11 (Coagulation factor XI)
R326H (p.Arg326His) 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 Plasma factor XI deficiency; not provided; Hereditary factor XI deficiency disea. 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.
R326H (p.Arg326His) variant details
- p.Arg326His
- rs1554082932
- ClinGen CA358938142
- cosmic curated COSV53005
- ClinVar RCV000665214
- Likely pathogenic
- Plasma factor XI deficiency; not provided; Hereditary factor XI deficiency disea
- Missense
- Variant Prioritization Score for Impact Estimate 0.546
- AlphaMissense 0.18
- MetaLR 0.65
- MetaSVM 0.36
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.27
- ClinVar: Likely pathogenic (Plasma factor XI deficiency; not provided; Hereditary factor XI)
- EBI: Likely pathogenic (in FA11D)
- UniProt: Likely pathogenic (in FA11D)
- Population evidence available
- Structural context available