I567T (p.Ile567Thr) variant of F8 (Coagulation factor VIII)
I567T (p.Ile567Thr) 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 IX deficiency disease; Hereditary factor VIII deficiency disea. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data, published literature, and structural context.
I567T (p.Ile567Thr) variant details
- p.Ile567Thr
- rs782193428
- ClinGen CA10568419
- ClinVar RCV000851714
- ClinVar RCV003994110
- Likely pathogenic
- Hereditary factor IX deficiency disease; Hereditary factor VIII deficiency disea
- Missense
- Variant Prioritization Score for Impact Estimate 0.828
- REVEL 0.96
- MetaLR 0.98
- MetaSVM 1.12
- CADD 25.30
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Hereditary factor IX deficiency disease; Hereditary factor VIII)
- EBI: Pathogenic (in HEMA)
- UniProt: Pathogenic (in HEMA)
- Most common in the Non-Finnish European population (allele frequency 5.6e-05)
- Structural context available
- Cited in: Analysis of 18 novel mutations in the factor VIII gene. (PMID 12930394)
- Cited in: Independent occurrence of the novel Arg2163 to His mutation in the factor VIII gene in three unrelated families with… (PMID 10215414)