R247C (p.Arg247Cys) variant of SERPINA1 (Alpha-1-antitrypsin)
R247C (p.Arg247Cys) in SERPINA1 (Alpha-1-antitrypsin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Alpha-1-antitrypsin deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
R247C (p.Arg247Cys) variant details
- p.Arg247Cys
- rs28929470
- ClinGen CA325638
- cosmic curated COSV63345
- ClinVar RCV000019561
- Pathogenic
- Alpha-1-antitrypsin deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.499
- REVEL 0.60
- CADD 23.90
- PolyPhen-2 0.84
- SIFT 0.02
- ClinVar: Pathogenic (Alpha-1-antitrypsin deficiency)
- EBI: Pathogenic (in F)
- UniProt: Pathogenic (in F)
- Most common in the 1KG:GBR population (allele frequency 0.011)
- Structural context available
- Cited in: Characterization of the molecular basis of the alpha 1-antitrypsin F allele. (PMID 2035534)
- Cited in: The alpha 1-antitrypsin gene and its deficiency states. (PMID 2696185)