R63C (p.Arg63Cys) variant of SERPINA1 (Alpha-1-antitrypsin)
R63C (p.Arg63Cys) in SERPINA1 (Alpha-1-antitrypsin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided; Alpha-1-antitrypsin deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data, published literature, and structural context.
R63C (p.Arg63Cys) variant details
- p.Arg63Cys
- rs28931570
- ClinGen CA325650
- cosmic curated COSV63345
- ClinVar RCV000019575
- Pathogenic
- not provided; Alpha-1-antitrypsin deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.564
- REVEL 0.69
- CADD 25.90
- PolyPhen-2 0.95
- SIFT 0.03
- ClinVar: Pathogenic (Alpha-1-antitrypsin deficiency)
- EBI: Pathogenic (in A1ATD)
- UniProt: Pathogenic (in A1ATD)
- Most common in the 1KG:IBS population (allele frequency 0.0048)
- Structural context available
- Cited in: Molecular characterization of the P and I variants of alpha 1-antitrypsin. (PMID 1504305)
- Cited in: Molecular characterisation of three alpha-1-antitrypsin deficiency variants: proteinase inhibitor (Pi) nullcardiff… (PMID 2606478)