L12P (p.Leu12Pro) variant of ALDH2 (P05091)
L12P (p.Leu12Pro) in ALDH2 (P05091) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
L12P (p.Leu12Pro) variant details
- p.Leu12Pro
- TOPMed rs1215850690
- gnomAD rs1215850690
- Missense
- Variant Prioritization Score for Impact Estimate 0.44
- REVEL 0.26
- CADD 19.20
- PolyPhen-2 0.00
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available