E33K (p.Glu33Lys) variant of ALDH2 (P05091)
E33K (p.Glu33Lys) in ALDH2 (P05091) 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.
E33K (p.Glu33Lys) variant details
- p.Glu33Lys
- gnomAD rs1483619171
- Missense
- Variant Prioritization Score for Impact Estimate 0.225
- REVEL 0.08
- CADD 22.40
- PolyPhen-2 0.00
- SIFT 0.37
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available