A58T (p.Ala58Thr) variant of SERPINA1 (Alpha-1-antitrypsin)
A58T (p.Ala58Thr) 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 SERPINA1-related disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
A58T (p.Ala58Thr) variant details
- p.Ala58Thr
- rs149319176
- cosmic curated COSV10087
- UniProt VAR 006980
- ESP rs149319176
- Uncertain significance
- SERPINA1-related disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.362
- REVEL 0.45
- CADD 9.06
- PolyPhen-2 0.13
- SIFT 0.13
- ClinVar: Uncertain significance (SERPINA1-related disorder)
- EBI: Benign (in M5-Karlsruhe)
- UniProt: Benign (in M5-Karlsruhe)
- Most common in the Latino/Admixed American population (allele frequency 0.00052)
- 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)