R78C (p.Arg78Cys) variant of F13A1 (Coagulation factor XIII A chain)
R78C (p.Arg78Cys) in F13A1 (Coagulation factor XIII A chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Factor XIII, A subunit, deficiency of. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes population frequency data and structural context.
R78C (p.Arg78Cys) variant details
- p.Arg78Cys
- rs760818476
- ClinGen CA134400220
- NCI-TCGA Cosmic COSV5355
- NCI-TCGA Cosmic COSV5356
- Pathogenic
- Factor XIII, A subunit, deficiency of
- Missense
- Variant Prioritization Score for Impact Estimate 0.9
- REVEL 0.93
- MetaLR 0.97
- MetaSVM 1.10
- CADD 31.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Factor XIII, A subunit, deficiency of)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available