P28L (p.Pro28Leu) variant of ALDH2 (P05091)
P28L (p.Pro28Leu) in ALDH2 (P05091) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data and structural context.
P28L (p.Pro28Leu) variant details
- p.Pro28Leu
- gnomAD rs1269099351
- Missense
- Variant Prioritization Score for Impact Estimate 0.566
- REVEL 0.43
- CADD 24.50
- PolyPhen-2 0.56
- SIFT 0.01
- Most common in the Latino/Admixed American population (allele frequency 5.7e-05)
- Structural context available