T92I (p.Thr92Ile) variant of SERPINA1 (Alpha-1-antitrypsin)
T92I (p.Thr92Ile) in SERPINA1 (Alpha-1-antitrypsin) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in A1ATD. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data, published literature, and structural context.
T92I (p.Thr92Ile) variant details
- p.Thr92Ile
- rs1490133295
- UniProt VAR 006988
- TOPMed rs1490133295
- gnomAD rs1490133295
- Pathogenic
- in A1ATD
- Missense
- Variant Prioritization Score for Impact Estimate 0.575
- REVEL 0.64
- CADD 24.10
- PolyPhen-2 0.96
- SIFT 0.00
- EBI: Pathogenic (in A1ATD)
- UniProt: Pathogenic (in A1ATD)
- Most common in the Latino/Admixed American population (allele frequency 0.0011)
- Structural context available
- Cited in: Identification and DNA sequence analysis of 15 new alpha 1-antitrypsin variants, including two PI*Q0 alleles and one… (PMID 7977369)
- Cited in: Identification and molecular characterization of the new alpha-1-antitrypsin deficient allele PI Y barcelona… (PMID 10651487)