T137A (p.Thr137Ala) variant of F8 (Coagulation factor VIII)
T137A (p.Thr137Ala) in F8 (Coagulation factor VIII) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Hereditary factor VIII deficiency disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data, published literature, and structural context.
T137A (p.Thr137Ala) variant details
- p.Thr137Ala
- UniProt VAR 028476
- Likely pathogenic
- Hereditary factor VIII deficiency disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.796
- REVEL 0.91
- MetaLR 0.97
- MetaSVM 1.19
- CADD 23.30
- PolyPhen-2 0.97
- SIFT 0.03
- ClinVar: Likely pathogenic (Hereditary factor VIII deficiency disease)
- EBI: Pathogenic (in HEMA)
- UniProt: Pathogenic (in HEMA)
- Most common in the Non-Finnish European population (allele frequency 2.4e-06)
- Structural context available
- Cited in: Molecular pathology of haemophilia A in Turkish patients: identification of 36 independent mutations. (PMID 11554935)
- Cited in: Independent occurrence of the novel Arg2163 to His mutation in the factor VIII gene in three unrelated families with… (PMID 10215414)