A4T (p.Ala4Thr) variant of ALDH2 (P05091)
A4T (p.Ala4Thr) in ALDH2 (P05091) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and structural context.
A4T (p.Ala4Thr) variant details
- p.Ala4Thr
- TOPMed rs2068162511
- Missense
- Variant Prioritization Score for Impact Estimate 0.211
- REVEL 0.13
- CADD 18.20
- PolyPhen-2 0.00
- SIFT 0.39
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available