E33D (p.Glu33Asp) variant of ALDH2 (P05091)
E33D (p.Glu33Asp) 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.
E33D (p.Glu33Asp) variant details
- p.Glu33Asp
- gnomAD rs1256069672
- Missense
- Variant Prioritization Score for Impact Estimate 0.292
- REVEL 0.03
- CADD 15.50
- PolyPhen-2 0.00
- SIFT 0.43
- Most common in the Ashkenazi Jewish population (allele frequency 4.1e-05)
- Structural context available