F76L (p.Phe76Leu) variant of SERPINA1 (Alpha-1-antitrypsin)
F76L (p.Phe76Leu) in SERPINA1 (Alpha-1-antitrypsin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data and structural context.
F76L (p.Phe76Leu) variant details
- p.Phe76Leu
- gnomAD rs1458111327
- Missense
- Variant Prioritization Score for Impact Estimate 0.532
- REVEL 0.62
- CADD 23.80
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available