M382R (p.Met382Arg) variant of SERPINA1 (Alpha-1-antitrypsin)
M382R (p.Met382Arg) 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; Hemorrhagic disease due to alpha-1-antitrypsin P. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes published literature and structural context.
M382R (p.Met382Arg) variant details
- p.Met382Arg
- rs121912713
- ClinGen CA127707
- ClinVar RCV000019591
- ClinVar RCV000201860
- Pathogenic
- Alpha-1-antitrypsin deficiency; Hemorrhagic disease due to alpha-1-antitrypsin P
- Missense
- Variant Prioritization Score for Impact Estimate 0.421
- AlphaMissense 0.27
- MetaLR 0.37
- MetaSVM -0.71
- PolyPhen-2 0.02
- SIFT 0.23
- EVE 0.36
- ClinVar: Pathogenic (Alpha-1-antitrypsin deficiency; Hemorrhagic disease due to alpha)
- EBI: Pathogenic (in Pittsburgh)
- UniProt: Pathogenic (in Pittsburgh)
- Structural context available
- Cited in: Canonical inhibitor-like interactions explain reactivity of alpha1-proteinase inhibitor Pittsburgh and antithrombin… (PMID 12860985)
- Cited in: Met 358 to Arg mutation of alpha 1-antitrypsin associated with protein C deficiency in a patient with mild bleeding… (PMID 1569192)