H39Y (p.His39Tyr) variant of SERPINA1 (Alpha-1-antitrypsin)
H39Y (p.His39Tyr) 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 0.18 / 1. The record also includes population frequency data and structural context.
H39Y (p.His39Tyr) variant details
- p.His39Tyr
- rs138070585
- ClinGen CA390850758
- ClinVar RCV003982564
- Uncertain significance
- SERPINA1-related disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.183
- REVEL 0.28
- CADD 1.04
- PolyPhen-2 0.04
- SIFT 0.03
- ClinVar: Uncertain significance (SERPINA1-related disorder)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available