F83L (p.Phe83Leu) variant of F13A1 (Coagulation factor XIII A chain)
F83L (p.Phe83Leu) 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 0.69 / 1. The record also includes population frequency data and structural context.
F83L (p.Phe83Leu) variant details
- p.Phe83Leu
- NCI-TCGA TCGA novel
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.69
- REVEL 0.81
- MetaLR 0.33
- MetaSVM -0.32
- CADD 26.10
- PolyPhen-2 0.93
- SIFT 0.02
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available