T46N (p.Thr46Asn) variant of SERPINA1 (Alpha-1-antitrypsin)
T46N (p.Thr46Asn) in SERPINA1 (Alpha-1-antitrypsin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data and structural context.
T46N (p.Thr46Asn) variant details
- p.Thr46Asn
- gnomAD rs1381869222
- Missense
- Variant Prioritization Score for Impact Estimate 0.199
- REVEL 0.19
- CADD 7.46
- PolyPhen-2 0.04
- SIFT 0.06
- Most common in the Finnish in Finland (FIN) population (allele frequency 1.9e-05)
- Structural context available