M88V (p.Met88Val) variant of F8 (Coagulation factor VIII)
M88V (p.Met88Val) in F8 (Coagulation factor VIII) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Hereditary factor VIII deficiency disease; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data, published literature, and structural context.
M88V (p.Met88Val) variant details
- p.Met88Val
- rs782731044
- ClinGen CA414920150
- ClinVar RCV001528190
- ClinVar RCV002305613
- Conflicting interpretations
- Hereditary factor VIII deficiency disease; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.768
- AlphaMissense 0.29
- MetaLR 0.95
- MetaSVM 1.12
- PolyPhen-2 1.00
- SIFT 0.01
- EVE 0.75
- ClinVar: Conflicting classifications of pathogenicity (Hereditary factor VIII deficiency disease; not provided)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Population evidence available
- Structural context available
- Cited in: Hemophilia A. (PMID 20301578)
- Cited in: Clinical utility gene card for: haemophilia A. (PMID 21654722)