A43P (p.Ala43Pro) variant of ADH1B (P00325)
A43P (p.Ala43Pro) in ADH1B (P00325) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
A43P (p.Ala43Pro) variant details
- p.Ala43Pro
- TOPMed rs1389807535
- gnomAD rs1389807535
- Missense
- Variant Prioritization Score for Impact Estimate 0.391
- REVEL 0.24
- CADD 23.70
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available