A97P (p.Ala97Pro) variant of F8 (Coagulation factor VIII)
A97P (p.Ala97Pro) in F8 (Coagulation factor VIII) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in HEMA. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes published literature and structural context.
A97P (p.Ala97Pro) variant details
- p.Ala97Pro
- rs2073621626
- UniProt VAR 017331
- TOPMed rs2073621626
- Pathogenic
- in HEMA
- Missense
- Variant Prioritization Score for Impact Estimate 0.901
- AlphaMissense 0.90
- MetaLR 0.98
- MetaSVM 1.01
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.68
- EBI: Pathogenic (in HEMA)
- UniProt: Pathogenic (in HEMA)
- Structural context available
- Cited in: Three novel point mutations causing haemophilia A. (PMID 12199686)
- Cited in: Independent occurrence of the novel Arg2163 to His mutation in the factor VIII gene in three unrelated families with… (PMID 10215414)