V5I (p.Val5Ile) variant of SERPINA1 (Alpha-1-antitrypsin)
V5I (p.Val5Ile) in SERPINA1 (Alpha-1-antitrypsin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data and structural context.
V5I (p.Val5Ile) variant details
- p.Val5Ile
- ExAC rs776904334
- TOPMed rs776904334
- gnomAD rs776904334
- Missense
- Variant Prioritization Score for Impact Estimate 0.171
- REVEL 0.24
- CADD 0.05
- PolyPhen-2 0.01
- SIFT 1.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available