R327Q (p.Arg327Gln) variant of F13A1 (Coagulation factor XIII A chain)
R327Q (p.Arg327Gln) in F13A1 (Coagulation factor XIII A chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Factor XIII, A subunit, deficiency of. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes population frequency data, published literature, and structural context.
R327Q (p.Arg327Gln) variant details
- p.Arg327Gln
- rs121913072
- ClinGen CA126639
- NCI-TCGA Cosmic COSV5356
- ClinVar RCV000017998
- Pathogenic/Likely pathogenic
- not provided; Factor XIII, A subunit, deficiency of
- Missense
- Variant Prioritization Score for Impact Estimate 0.913
- REVEL 0.96
- MetaLR 0.99
- MetaSVM 0.97
- CADD 29.20
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (not provided; Factor XIII, A subunit, deficiency of)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available
- Cited in: Two novel and one recurrent missense mutation in the factor XIII A gene in two Dutch patients with factor XIII… (PMID 11167856)
- Cited in: Four novel mutations in deficiency of coagulation factor XIII: consequences to expression and structure of the… (PMID 8547636)