P28L (p.Pro28Leu) variant of F13A1 (Coagulation factor XIII A chain)
P28L (p.Pro28Leu) 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 0.52 / 1. The record also includes population frequency data and structural context.
P28L (p.Pro28Leu) variant details
- p.Pro28Leu
- rs1290002388
- TOPMed rs1290002388
- gnomAD rs1290002388
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.522
- REVEL 0.40
- MetaLR 0.46
- MetaSVM 0.06
- CADD 24.50
- PolyPhen-2 0.85
- SIFT 0.18
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available