H97Q (p.His97Gln) variant of SERPINA1 (Alpha-1-antitrypsin)
H97Q (p.His97Gln) in SERPINA1 (Alpha-1-antitrypsin) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
H97Q (p.His97Gln) variant details
- p.His97Gln
- ExAC rs781502220
- TOPMed rs781502220
- gnomAD rs781502220
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.33
- REVEL 0.36
- CADD 13.30
- PolyPhen-2 0.22
- SIFT 0.26
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available