R63G (p.Arg63Gly) variant of SERPINA1 (Alpha-1-antitrypsin)
R63G (p.Arg63Gly) in SERPINA1 (Alpha-1-antitrypsin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data and structural context.
R63G (p.Arg63Gly) variant details
- p.Arg63Gly
- rs28931570
- ClinGen CA390850601
- ClinVar RCV002261498
- 1000Genomes rs28931570
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.529
- REVEL 0.64
- CADD 24.70
- PolyPhen-2 0.89
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Pathogenic (in A1ATD)
- UniProt: Pathogenic (in A1ATD)
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available