S296R (p.Ser296Arg) variant of F13A1 (Coagulation factor XIII A chain)
S296R (p.Ser296Arg) 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 0.66 / 1. The record also includes population frequency data and structural context.
S296R (p.Ser296Arg) variant details
- p.Ser296Arg
- rs778181928
- ClinGen CA362740036
- ClinVar RCV000851910
- ExAC rs778181928
- Likely pathogenic
- Factor XIII, A subunit, deficiency of
- Missense
- Variant Prioritization Score for Impact Estimate 0.663
- REVEL 0.91
- MetaLR 0.93
- MetaSVM 1.00
- CADD 15.40
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Factor XIII, A subunit, deficiency of)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available