P393L (p.Pro393Leu) variant of SERPINA1 (Alpha-1-antitrypsin)
P393L (p.Pro393Leu) in SERPINA1 (Alpha-1-antitrypsin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Inborn genetic diseases; not provided; Alpha-1-antitrypsin deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data, published literature, and structural context.
P393L (p.Pro393Leu) variant details
- p.Pro393Leu
- rs199422209
- cosmic curated COSV63345
- ClinGen CA127662
- ClinVar RCV000019565
- Pathogenic
- Inborn genetic diseases; not provided; Alpha-1-antitrypsin deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.73
- REVEL 0.86
- CADD 25.20
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Inborn genetic diseases; not provided; Alpha-1-antitrypsin defic)
- EBI: Pathogenic (in A1ATD)
- UniProt: Pathogenic (in A1ATD)
- Most common in the Non-Finnish European population (allele frequency 0.00022)
- Structural context available
- Cited in: A Pro----Leu substitution in codon 369 of the alpha-1-antitrypsin deficiency variant PI MHeerlen. (PMID 2784123)
- Cited in: Deoxyribonucleic acid (DNA) polymorphism of the alpha 1-antitrypsin gene in chronic lung disease. (PMID 3038256)