L17M (p.Leu17Met) variant of ALDH2 (P05091)
L17M (p.Leu17Met) in ALDH2 (P05091) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
L17M (p.Leu17Met) variant details
- p.Leu17Met
- gnomAD 12-111767031-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.26
- REVEL 0.22
- CADD 5.75
- PolyPhen-2 0.00
- SIFT 0.40
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available
- Literature evidence available