I9N (p.Ile9Asn) variant of SERPINA1 (Alpha-1-antitrypsin)
I9N (p.Ile9Asn) in SERPINA1 (Alpha-1-antitrypsin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
I9N (p.Ile9Asn) variant details
- p.Ile9Asn
- gnomAD rs1296175763
- Missense
- Variant Prioritization Score for Impact Estimate 0.445
- REVEL 0.45
- CADD 23.20
- PolyPhen-2 0.19
- SIFT 0.00
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available