A5T (p.Ala5Thr) variant of ALDH2 (P05091)
A5T (p.Ala5Thr) in ALDH2 (P05091) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data and structural context.
A5T (p.Ala5Thr) variant details
- p.Ala5Thr
- 1000Genomes rs551088152
- TOPMed rs551088152
- gnomAD rs551088152
- Missense
- Variant Prioritization Score for Impact Estimate 0.2
- REVEL 0.14
- CADD 17.00
- PolyPhen-2 0.01
- SIFT 0.47
- Most common in the 1KG:CDX population (allele frequency 0.0057)
- Structural context available