F54L (p.Phe54Leu) variant of F13A1 (Coagulation factor XIII A chain)
F54L (p.Phe54Leu) in F13A1 (Coagulation factor XIII A chain) is a missense change. Clinical records from EBI and UniProt describe it as benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data and structural context.
F54L (p.Phe54Leu) variant details
- p.Phe54Leu
- 1000Genomes rs138690353
- ESP rs138690353
- ExAC rs138690353
- TOPMed rs138690353
- Benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.465
- REVEL 0.46
- MetaLR 0.19
- MetaSVM -0.75
- CADD 18.00
- PolyPhen-2 0.00
- SIFT 0.82
- EBI: Benign
- UniProt: Benign
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available