V19I (p.Val19Ile) variant of SERPINA1 (Alpha-1-antitrypsin)
V19I (p.Val19Ile) in SERPINA1 (Alpha-1-antitrypsin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
V19I (p.Val19Ile) variant details
- p.Val19Ile
- ExAC rs780969205
- gnomAD rs780969205
- Missense
- Variant Prioritization Score for Impact Estimate 0.233
- REVEL 0.24
- CADD 5.34
- PolyPhen-2 0.05
- SIFT 0.06
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available