K108T (p.Lys108Thr) variant of F8 (Coagulation factor VIII)
K108T (p.Lys108Thr) 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 0.78 / 1. The record also includes population frequency data, published literature, and structural context.
K108T (p.Lys108Thr) variant details
- p.Lys108Thr
- rs137852384
- ClinGen CA255056
- NCI-TCGA Cosmic COSV6427
- ClinVar RCV000010880
- Likely pathogenic
- Hereditary factor VIII deficiency disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.778
- REVEL 0.87
- MetaLR 0.96
- MetaSVM 1.03
- CADD 24.60
- SIFT 0.00
- ClinVar: Likely pathogenic (Hereditary factor VIII deficiency disease)
- EBI: Pathogenic (in HEMA)
- UniProt: Pathogenic (in HEMA)
- Most common in the African/African-American population (allele frequency 6.5e-05)
- Structural context available
- Cited in: Molecular characterization of severe hemophilia A suggests that about half the mutations are not within the coding… (PMID 1908096)
- Cited in: Independent occurrence of the novel Arg2163 to His mutation in the factor VIII gene in three unrelated families with… (PMID 10215414)