R704W (p.Arg704Trp) variant of F13A1 (Coagulation factor XIII A chain)
R704W (p.Arg704Trp) 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 0.60 / 1. The record also includes population frequency data, published literature, and structural context.
R704W (p.Arg704Trp) variant details
- p.Arg704Trp
- rs267606787
- ClinGen CA126648
- NCI-TCGA Cosmic COSV5356
- ClinVar RCV000018003
- Likely pathogenic
- Factor XIII, A subunit, deficiency of
- Missense
- Variant Prioritization Score for Impact Estimate 0.604
- REVEL 0.70
- MetaLR 0.50
- MetaSVM 0.08
- CADD 27.70
- PolyPhen-2 1.00
- SIFT 0.03
- ClinVar: Likely pathogenic (Factor XIII, A subunit, deficiency of)
- EBI: Pathogenic (in FA13AD)
- UniProt: Pathogenic (in FA13AD)
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Cited in: The Arg703Trp missense mutation in F13A1 is a de novo event. (PMID 19438481)