I50V (p.Ile50Val) variant of SERPINA1 (Alpha-1-antitrypsin)
I50V (p.Ile50Val) 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.
I50V (p.Ile50Val) variant details
- p.Ile50Val
- TOPMed rs963967922
- gnomAD rs963967922
- Missense
- Variant Prioritization Score for Impact Estimate 0.302
- REVEL 0.30
- CADD 6.74
- PolyPhen-2 0.01
- SIFT 0.16
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available