C69S (p.Cys69Ser) variant of F9 (Coagulation factor IX)
C69S (p.Cys69Ser) in F9 (Coagulation factor IX) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.99 / 1. The record also includes structural context.
C69S (p.Cys69Ser) variant details
- p.Cys69Ser
- rs2148356172
- ClinGen CA414436026
- ClinVar RCV001812550
- Ensembl rs2148356172
- Likely pathogenic
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.987
- AlphaMissense 0.99
- MetaLR 1.00
- MetaSVM 0.99
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.93
- ClinVar: Likely pathogenic (not provided)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available