Q30* (p.Gln30Ter) variant of ALDH2 (P05091)
Q30* (p.Gln30Ter) in ALDH2 (P05091) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data and structural context.
Q30* (p.Gln30Ter) variant details
- p.Gln30Ter
- TOPMed rs1035974154
- gnomAD rs1035974154
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.727
- CADD 35.00
- Most common in the Latino/Admixed American population (allele frequency 2.9e-05)
- Structural context available