G139S (p.Gly139Ser) variant of SERPINA1 (Alpha-1-antitrypsin)
G139S (p.Gly139Ser) in SERPINA1 (Alpha-1-antitrypsin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic; other in the context of Alpha-1-antitrypsin deficiency; PI NULL(DEVON); PI Q0(DEVON). The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data, published literature, and structural context.
G139S (p.Gly139Ser) variant details
- p.Gly139Ser
- rs11558261
- ClinGen CA127734
- NCI-TCGA Cosmic COSV1008
- cosmic curated COSV10087
- Pathogenic; other
- Alpha-1-antitrypsin deficiency; PI NULL(DEVON); PI Q0(DEVON)
- Missense
- Variant Prioritization Score for Impact Estimate 0.625
- REVEL 0.67
- AlphaMissense 0.22
- MetaLR 0.74
- MetaSVM 0.56
- CADD 23.20
- PolyPhen-2 1.00
- ClinVar: Pathogenic; other (Alpha-1-antitrypsin deficiency; PI NULL(DEVON); PI Q0(DEVON))
- EBI: Pathogenic (in A1ATD)
- UniProt: Pathogenic (in A1ATD)
- Most common in the South Asian population (allele frequency 0.00062)
- Structural context available
- Cited in: Alpha 1-antitrypsin deficiency, emphysema, and liver disease. Genetic basis and strategies for therapy. (PMID 2185272)
- Cited in: Molecular characterisation of two alpha-1-antitrypsin deficiency variants: proteinase inhibitor (Pi) Null(Newport)… (PMID 2227940)