S69F (p.Ser69Phe) variant of SERPINA1 (Alpha-1-antitrypsin)
S69F (p.Ser69Phe) 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 Alpha-1-antitrypsin deficiency; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
S69F (p.Ser69Phe) variant details
- p.Ser69Phe
- rs199687431
- ClinGen CA7327526
- ClinVar RCV000353319
- ClinVar RCV000734913
- Uncertain significance
- Alpha-1-antitrypsin deficiency; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.425
- REVEL 0.40
- CADD 25.10
- PolyPhen-2 0.97
- SIFT 0.00
- ClinVar: Uncertain significance (Alpha-1-antitrypsin deficiency; not provided)
- EBI: Benign (in M6-Bonn)
- UniProt: Benign (in M6-Bonn)
- Population evidence available
- 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)