H44Q (p.His44Gln) variant of SERPINA1 (Alpha-1-antitrypsin)
H44Q (p.His44Gln) in SERPINA1 (Alpha-1-antitrypsin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and structural context.
H44Q (p.His44Gln) variant details
- p.His44Gln
- gnomAD rs1214596628
- Missense
- Variant Prioritization Score for Impact Estimate 0.207
- REVEL 0.29
- CADD 5.01
- PolyPhen-2 0.01
- SIFT 0.10
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available