H52D (p.His52Asp) variant of ADH1B (P00325)
H52D (p.His52Asp) in ADH1B (P00325) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
H52D (p.His52Asp) variant details
- p.His52Asp
- TOPMed rs1733935226
- gnomAD rs1733935226
- Missense
- Variant Prioritization Score for Impact Estimate 0.416
- REVEL 0.22
- CADD 23.50
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available