I50L (p.Ile50Leu) variant of SERPINA1 (Alpha-1-antitrypsin)
I50L (p.Ile50Leu) in SERPINA1 (Alpha-1-antitrypsin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
I50L (p.Ile50Leu) variant details
- p.Ile50Leu
- TOPMed rs963967922
- gnomAD rs963967922
- Missense
- Variant Prioritization Score for Impact Estimate 0.359
- REVEL 0.38
- CADD 9.90
- PolyPhen-2 0.04
- SIFT 0.10
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available