R63L (p.Arg63Leu) variant of SERPINA1 (Alpha-1-antitrypsin)
R63L (p.Arg63Leu) in SERPINA1 (Alpha-1-antitrypsin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Alpha-1-antitrypsin deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data, published literature, and structural context.
R63L (p.Arg63Leu) variant details
- p.Arg63Leu
- rs764726147
- ClinGen CA348069
- ClinVar RCV000203791
- ExAC rs764726147
- Likely benign
- Alpha-1-antitrypsin deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.594
- REVEL 0.62
- CADD 21.40
- PolyPhen-2 0.78
- SIFT 0.00
- ClinVar: Likely benign (Alpha-1-antitrypsin deficiency)
- EBI: Likely benign (in A1ATD)
- UniProt: Likely benign (in A1ATD)
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available
- Cited in: American Thoracic Society/European Respiratory Society statement: standards for the diagnosis and management of… (PMID 14522813)
- Cited in: [American Thoracic Society/European Respiratory Society Statement: Standards for the diagnosis and management of… (PMID 15685488)