L16H (p.Leu16His) variant of ALDH2 (P05091)
L16H (p.Leu16His) in ALDH2 (P05091) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
L16H (p.Leu16His) variant details
- p.Leu16His
- gnomAD 12-111767019-GGCC
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.473
- CADD 25.00
- Most common in the Non-Finnish European population (allele frequency 4.7e-06)
- Structural context available
- Literature evidence available