E1701K (p.Glu1701Lys) variant of F8 (Coagulation factor VIII)
E1701K (p.Glu1701Lys) 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 Factor VIII deficiency; not provided; Hereditary factor VIII deficiency disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data, published literature, and structural context.
E1701K (p.Glu1701Lys) variant details
- p.Glu1701Lys
- rs2073173294
- ClinGen CA414913935
- NCI-TCGA Cosmic COSV1008
- ClinVar RCV003480393
- Likely pathogenic
- Factor VIII deficiency; not provided; Hereditary factor VIII deficiency disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.727
- REVEL 0.72
- MetaLR 0.93
- MetaSVM 0.79
- CADD 22.50
- PolyPhen-2 0.22
- SIFT 0.00
- ClinVar: Likely pathogenic (Factor VIII deficiency; not provided; Hereditary factor VIII def)
- EBI: Pathogenic (in HEMA)
- UniProt: Pathogenic (in HEMA)
- Most common in the REMAINING population (allele frequency 2.2e-05)
- Structural context available
- Cited in: Mutation analysis in 51 patients with haemophilia A: report of 10 novel mutations and correlations between genotype and… (PMID 15810915)
- Cited in: Independent occurrence of the novel Arg2163 to His mutation in the factor VIII gene in three unrelated families with… (PMID 10215414)