A58S (p.Ala58Ser) variant of SERPINA1 (Alpha-1-antitrypsin)
A58S (p.Ala58Ser) in SERPINA1 (Alpha-1-antitrypsin) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance in the context of in M5-Karlsruhe. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
A58S (p.Ala58Ser) variant details
- p.Ala58Ser
- ESP rs149319176
- ExAC rs149319176
- TOPMed rs149319176
- gnomAD rs149319176
- Uncertain significance
- in M5-Karlsruhe
- Missense
- Variant Prioritization Score for Impact Estimate 0.355
- REVEL 0.45
- CADD 7.85
- PolyPhen-2 0.13
- SIFT 0.06
- EBI: Variant of uncertain significance (in M5-Karlsruhe)
- UniProt: Uncertain significance (in M5-Karlsruhe)
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available