P206S (p.Pro206Ser) variant of F11 (Coagulation factor XI)
P206S (p.Pro206Ser) 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 Hereditary factor XI deficiency disease; Plasma factor XI deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
P206S (p.Pro206Ser) variant details
- p.Pro206Ser
- rs779123395
- ClinGen CA3163733
- ClinVar RCV002222147
- ExAC rs779123395
- Likely pathogenic
- Hereditary factor XI deficiency disease; Plasma factor XI deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.441
- AlphaMissense 0.11
- MetaLR 0.56
- MetaSVM -0.27
- PolyPhen-2 0.93
- SIFT 0.13
- EVE 0.15
- ClinVar: Likely pathogenic (Hereditary factor XI deficiency disease; Plasma factor XI defici)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Population evidence available
- Structural context available