R78H (p.Arg78His) variant of F13A1 (Coagulation factor XIII A chain)
R78H (p.Arg78His) in F13A1 (Coagulation factor XIII A chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Factor XIII, A subunit, deficiency of. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data and structural context.
R78H (p.Arg78His) variant details
- p.Arg78His
- ExAC rs768024997
- TOPMed rs768024997
- gnomAD rs768024997
- Likely pathogenic
- Factor XIII, A subunit, deficiency of
- Missense
- Variant Prioritization Score for Impact Estimate 0.872
- REVEL 0.89
- MetaLR 0.97
- MetaSVM 1.10
- CADD 27.60
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Factor XIII, A subunit, deficiency of)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available