L16I (p.Leu16Ile) variant of ALDH2 (P05091)
L16I (p.Leu16Ile) in ALDH2 (P05091) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data, published literature, and structural context.
L16I (p.Leu16Ile) variant details
- p.Leu16Ile
- gnomAD 12-111767028-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.139
- REVEL 0.05
- CADD 5.03
- PolyPhen-2 0.01
- SIFT 0.51
- Population evidence available
- Structural context available
- Literature evidence available