E366K (p.Glu366Lys) variant of SERPINA1 (Alpha-1-antitrypsin)
E366K (p.Glu366Lys) in SERPINA1 (Alpha-1-antitrypsin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Neurodevelopmental disorder; SERPINA1-related disorder; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data, published literature, and structural context.
E366K (p.Glu366Lys) variant details
- p.Glu366Lys
- rs28929474
- ClinGen CA127676
- cosmic curated COSV99054
- ClinVar RCV000019567
- Pathogenic
- Neurodevelopmental disorder; SERPINA1-related disorder; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.672
- REVEL 0.69
- CADD 23.50
- PolyPhen-2 1.00
- SIFT 0.07
- ClinVar: Pathogenic (Alpha-1-antitrypsin deficiency)
- EBI: Pathogenic (in A1ATD)
- UniProt: Pathogenic (in A1ATD)
- Most common in the HGDP:HAZARA population (allele frequency 0.031)
- Structural context available
- Cited in: The mechanism of Z alpha 1-antitrypsin accumulation in the liver. (PMID 1608473)
- Cited in: Age of SERPINA1 gene PI Z mutation: Swedish and Latvian population analysis. (PMID 18294358)