F57L (p.Phe57Leu) variant of SERPINA1 (Alpha-1-antitrypsin)
F57L (p.Phe57Leu) in SERPINA1 (Alpha-1-antitrypsin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Alpha-1-antitrypsin deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
F57L (p.Phe57Leu) variant details
- p.Phe57Leu
- 1000Genomes rs150784949
- ESP rs150784949
- ExAC rs150784949
- TOPMed rs150784949
- Likely pathogenic
- Alpha-1-antitrypsin deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.384
- REVEL 0.61
- CADD 3.06
- PolyPhen-2 0.39
- SIFT 0.19
- ClinVar: Likely pathogenic (Alpha-1-antitrypsin deficiency)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available