A20T (p.Ala20Thr) variant of ALDH2 (P05091)
A20T (p.Ala20Thr) in ALDH2 (P05091) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
A20T (p.Ala20Thr) variant details
- p.Ala20Thr
- TOPMed rs1002692747
- Missense
- Variant Prioritization Score for Impact Estimate 0.22
- REVEL 0.21
- CADD 15.60
- PolyPhen-2 0.00
- SIFT 0.18
- Most common in the East Asian population (allele frequency 2.9e-05)
- Structural context available