M2183V (p.Met2183Val) variant of F8 (Coagulation factor VIII)
M2183V (p.Met2183Val) in F8 (Coagulation factor VIII) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Hereditary factor IX deficiency disease; not provided; Hereditary factor VIII de. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data, published literature, and structural context.
M2183V (p.Met2183Val) variant details
- p.Met2183Val
- rs781797728
- ClinGen CA414907064
- ClinVar RCV000851608
- ClinVar RCV001286233
- Pathogenic/Likely pathogenic
- Hereditary factor IX deficiency disease; not provided; Hereditary factor VIII de
- Missense
- Variant Prioritization Score for Impact Estimate 0.723
- REVEL 0.87
- MetaLR 0.91
- MetaSVM 1.03
- CADD 24.20
- PolyPhen-2 0.96
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Hereditary factor IX deficiency disease; not provided; Hereditar)
- EBI: Pathogenic (in HEMA)
- UniProt: Pathogenic (in HEMA)
- Most common in the Non-Finnish European population (allele frequency 4.8e-06)
- Structural context available
- Cited in: Start of UK confidential haemophilia A database: analysis of 142 patients by solid phase fluorescent chemical cleavage… (PMID 10404764)
- Cited in: Molecular diagnostics of 15 hemophilia A patients: characterization of eight novel mutations in the factor VIII gene… (PMID 9792405)