V2035A (p.Val2035Ala) variant of F8 (Coagulation factor VIII)
V2035A (p.Val2035Ala) in F8 (Coagulation factor VIII) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided; Hereditary factor IX deficiency disease; Hereditary factor VIII de. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data, published literature, and structural context.
V2035A (p.Val2035Ala) variant details
- p.Val2035Ala
- rs1603432906
- ClinGen CA414904555
- ClinVar RCV000852173
- ClinVar RCV001803976
- Pathogenic
- not provided; Hereditary factor IX deficiency disease; Hereditary factor VIII de
- Missense
- Variant Prioritization Score for Impact Estimate 0.821
- REVEL 0.95
- MetaLR 0.99
- MetaSVM 0.84
- CADD 25.90
- PolyPhen-2 0.81
- SIFT 0.00
- ClinVar: Pathogenic (not provided; Hereditary factor IX deficiency disease; Hereditar)
- 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: Start of UK confidential haemophilia A database: analysis of 142 patients by solid phase fluorescent chemical cleavage… (PMID 10404764)
- Cited in: Independent occurrence of the novel Arg2163 to His mutation in the factor VIII gene in three unrelated families with… (PMID 10215414)