A24V (p.Ala24Val) variant of SERPINA1 (Alpha-1-antitrypsin)
A24V (p.Ala24Val) in SERPINA1 (Alpha-1-antitrypsin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
A24V (p.Ala24Val) variant details
- p.Ala24Val
- ExAC rs753867893
- TOPMed rs753867893
- gnomAD rs753867893
- Missense
- Variant Prioritization Score for Impact Estimate 0.304
- REVEL 0.25
- CADD 14.70
- PolyPhen-2 0.17
- SIFT 0.15
- Most common in the African/African-American population (allele frequency 7.2e-05)
- Structural context available