G122D (p.Gly122Asp) variant of F11 (Coagulation factor XI)
G122D (p.Gly122Asp) 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 Plasma factor XI deficiency; not specified; Hereditary factor XI deficiency dise. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data and structural context.
G122D (p.Gly122Asp) variant details
- p.Gly122Asp
- rs369650561
- ClinGen CA3163644
- ClinVar RCV000851977
- ClinVar RCV003330943
- Conflicting interpretations
- Plasma factor XI deficiency; not specified; Hereditary factor XI deficiency dise
- Missense
- Variant Prioritization Score for Impact Estimate 0.808
- REVEL 0.84
- ESM-1b 0.85
- AlphaMissense 0.64
- MetaLR 0.91
- MetaSVM 1.00
- CADD 24.20
- ClinVar: Conflicting classifications of pathogenicity (Plasma factor XI deficiency; not specified; Hereditary factor XI)
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available