A31G (p.Ala31Gly) variant of SERPINA1 (Alpha-1-antitrypsin)
A31G (p.Ala31Gly) in SERPINA1 (Alpha-1-antitrypsin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
A31G (p.Ala31Gly) variant details
- p.Ala31Gly
- TOPMed rs1897073335
- gnomAD rs1897073335
- Missense
- Variant Prioritization Score for Impact Estimate 0.279
- REVEL 0.28
- CADD 12.30
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available