P52R (p.Pro52Arg) variant of SERPINA1 (Alpha-1-antitrypsin)
P52R (p.Pro52Arg) in SERPINA1 (Alpha-1-antitrypsin) is a missense change. Clinical records from EBI and UniProt describe it as likely pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
P52R (p.Pro52Arg) variant details
- p.Pro52Arg
- TOPMed rs944607375
- gnomAD rs944607375
- Likely pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.269
- REVEL 0.34
- CADD 16.30
- PolyPhen-2 0.16
- SIFT 0.05
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available