S71R (p.Ser71Arg) variant of SERPINA1 (Alpha-1-antitrypsin)
S71R (p.Ser71Arg) in SERPINA1 (Alpha-1-antitrypsin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Alpha-1-antitrypsin deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
S71R (p.Ser71Arg) variant details
- p.Ser71Arg
- TOPMed rs1393875655
- gnomAD rs1393875655
- Likely benign
- Alpha-1-antitrypsin deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.297
- REVEL 0.17
- CADD 19.10
- ClinVar: Likely benign (Alpha-1-antitrypsin deficiency)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available