Q64R (p.Gln64Arg) variant of SERPINA1 (Alpha-1-antitrypsin)
Q64R (p.Gln64Arg) in SERPINA1 (Alpha-1-antitrypsin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
Q64R (p.Gln64Arg) variant details
- p.Gln64Arg
- ExAC rs763483402
- gnomAD rs763483402
- Missense
- Variant Prioritization Score for Impact Estimate 0.229
- REVEL 0.31
- CADD 6.73
- PolyPhen-2 0.04
- SIFT 0.56
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available