A43T (p.Ala43Thr) variant of ADH1B (P00325)
A43T (p.Ala43Thr) in ADH1B (P00325) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
A43T (p.Ala43Thr) variant details
- p.Ala43Thr
- TOPMed rs1389807535
- gnomAD rs1389807535
- Missense
- Variant Prioritization Score for Impact Estimate 0.334
- REVEL 0.17
- CADD 22.30
- PolyPhen-2 0.02
- SIFT 0.01
- Population evidence available
- Structural context available