G29E (p.Gly29Glu) variant of SERPINA1 (Alpha-1-antitrypsin)
G29E (p.Gly29Glu) in SERPINA1 (Alpha-1-antitrypsin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
G29E (p.Gly29Glu) variant details
- p.Gly29Glu
- cosmic curated COSV10650
- Missense
- Variant Prioritization Score for Impact Estimate 0.333
- REVEL 0.37
- CADD 12.20
- PolyPhen-2 0.02
- SIFT 0.25
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available