R38Q (p.Arg38Gln) variant of F13A1 (Coagulation factor XIII A chain)
R38Q (p.Arg38Gln) in F13A1 (Coagulation factor XIII A chain) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in FA13AD. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data, published literature, and structural context.
R38Q (p.Arg38Gln) variant details
- p.Arg38Gln
- rs759324596
- UniProt VAR 077619
- ExAC rs759324596
- TOPMed rs759324596
- Pathogenic
- in FA13AD
- Missense
- Variant Prioritization Score for Impact Estimate 0.571
- REVEL 0.51
- MetaLR 0.46
- MetaSVM -0.20
- CADD 24.40
- PolyPhen-2 0.59
- SIFT 0.08
- EBI: Pathogenic (in FA13AD)
- UniProt: Pathogenic (in FA13AD)
- Most common in the REMAINING population (allele frequency 5e-05)
- Structural context available
- Cited in: Coagulation Factor XIIIA Subunit Missense Mutations Affect Structure and Function at the Various Steps of Factor XIII… (PMID 27363989)
- Cited in: Identification of a point mutation in factor XIII A subunit deficiency. (PMID 1353995)