G129E (p.Gly129Glu) variant of F13A1 (Coagulation factor XIII A chain)
G129E (p.Gly129Glu) in F13A1 (Coagulation factor XIII A chain) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
G129E (p.Gly129Glu) variant details
- p.Gly129Glu
- NCI-TCGA Cosmic COSV5356
- TOPMed rs1300973507
- gnomAD rs1300973507
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.451
- REVEL 0.39
- MetaLR 0.65
- MetaSVM 0.30
- CADD 18.20
- PolyPhen-2 0.09
- SIFT 0.07
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available