G29R (p.Gly29Arg) variant of SERPINA1 (Alpha-1-antitrypsin)
G29R (p.Gly29Arg) in SERPINA1 (Alpha-1-antitrypsin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
G29R (p.Gly29Arg) variant details
- p.Gly29Arg
- cosmic curated COSV63345
- Missense
- Variant Prioritization Score for Impact Estimate 0.387
- REVEL 0.40
- CADD 15.10
- PolyPhen-2 0.34
- SIFT 0.07
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available