A2220P (p.Ala2220Pro) variant of F8 (Coagulation factor VIII)
A2220P (p.Ala2220Pro) in F8 (Coagulation factor VIII) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Hereditary factor VIII deficiency disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data, published literature, and structural context.
A2220P (p.Ala2220Pro) variant details
- p.Ala2220Pro
- rs782548763
- ClinGen CA10567779
- ClinVar RCV001330797
- ClinVar RCV001508070
- Pathogenic
- Hereditary factor VIII deficiency disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.643
- REVEL 0.71
- MetaLR 0.94
- MetaSVM 0.96
- CADD 23.50
- PolyPhen-2 0.90
- SIFT 0.08
- ClinVar: Pathogenic (Hereditary factor VIII deficiency disease)
- EBI: Pathogenic (in HEMA)
- UniProt: Pathogenic (in HEMA)
- Population evidence available
- Structural context available
- Cited in: Hemophilic factor VIII C1- and C2-domain missense mutations and their modeling to the 1.5-angstrom human C2-domain… (PMID 10910913)
- Cited in: Independent occurrence of the novel Arg2163 to His mutation in the factor VIII gene in three unrelated families with… (PMID 10215414)