A84T (p.Ala84Thr) variant of SERPINA1 (Alpha-1-antitrypsin)
A84T (p.Ala84Thr) in SERPINA1 (Alpha-1-antitrypsin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Alpha-1-antitrypsin deficiency. 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.
A84T (p.Ala84Thr) variant details
- p.Ala84Thr
- rs111850950
- ClinGen CA7327521
- ClinVar RCV000594503
- ClinVar RCV001117502
- Uncertain significance
- not provided; Alpha-1-antitrypsin deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.635
- REVEL 0.66
- CADD 26.40
- PolyPhen-2 0.92
- SIFT 0.00
- ClinVar: Uncertain significance (not provided; Alpha-1-antitrypsin deficiency)
- EBI: Benign (in M6-Passau)
- UniProt: Benign (in M6-Passau)
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- 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: American Thoracic Society/European Respiratory Society statement: standards for the diagnosis and management of… (PMID 14522813)