G115E (p.Gly115Glu) variant of F13A1 (Coagulation factor XIII A chain)
G115E (p.Gly115Glu) 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 0.76 / 1. The record also includes population frequency data and structural context.
G115E (p.Gly115Glu) variant details
- p.Gly115Glu
- rs1447248884
- NCI-TCGA Cosmic COSV5355
- gnomAD rs1447248884
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.763
- REVEL 0.74
- MetaLR 0.79
- MetaSVM 0.71
- CADD 25.40
- PolyPhen-2 0.88
- SIFT 0.01
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the East Asian population (allele frequency 7.6e-05)
- Structural context available