Q30E (p.Gln30Glu) variant of ALDH2 (P05091)
Q30E (p.Gln30Glu) in ALDH2 (P05091) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
Q30E (p.Gln30Glu) variant details
- p.Gln30Glu
- cosmic curated COSV10506
- TOPMed rs1035974154
- gnomAD rs1035974154
- Missense
- Variant Prioritization Score for Impact Estimate 0.268
- REVEL 0.05
- CADD 15.20
- PolyPhen-2 0.00
- SIFT 0.99
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available