M243T (p.Met243Thr) variant of F13A1 (Coagulation factor XIII A chain)
M243T (p.Met243Thr) 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 0.81 / 1. The record also includes population frequency data, published literature, and structural context.
M243T (p.Met243Thr) variant details
- p.Met243Thr
- rs267606788
- ClinGen CA126654
- ClinVar RCV000018005
- Ensembl rs267606788
- Pathogenic
- Factor XIII, A subunit, deficiency of
- Missense
- Variant Prioritization Score for Impact Estimate 0.813
- REVEL 0.93
- MetaLR 0.78
- MetaSVM 0.75
- CADD 25.90
- PolyPhen-2 0.98
- SIFT 0.00
- ClinVar: Pathogenic (Factor XIII, A subunit, deficiency of)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: Deficiency in the A-subunit of coagulation factor XIII: two novel point mutations demonstrate different effects on… (PMID 8025280)