A27T (p.Ala27Thr) variant of ALDH2 (P05091)
A27T (p.Ala27Thr) in ALDH2 (P05091) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data and structural context.
A27T (p.Ala27Thr) variant details
- p.Ala27Thr
- TOPMed rs1356795930
- gnomAD rs1356795930
- Missense
- Variant Prioritization Score for Impact Estimate 0.174
- REVEL 0.18
- CADD 13.00
- PolyPhen-2 0.00
- SIFT 0.46
- Most common in the African/African-American population (allele frequency 3.4e-05)
- Structural context available