Q23R (p.Gln23Arg) variant of ALDH2 (P05091)
Q23R (p.Gln23Arg) in ALDH2 (P05091) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
Q23R (p.Gln23Arg) variant details
- p.Gln23Arg
- TOPMed rs1330573776
- gnomAD rs1330573776
- Missense
- Variant Prioritization Score for Impact Estimate 0.295
- REVEL 0.10
- CADD 13.00
- PolyPhen-2 0.00
- SIFT 0.28
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available