I39V (p.Ile39Val) variant of ADH1B (P00325)
I39V (p.Ile39Val) in ADH1B (P00325) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data and structural context.
I39V (p.Ile39Val) variant details
- p.Ile39Val
- 1000Genomes rs200481568
- TOPMed rs200481568
- gnomAD rs200481568
- Missense
- Variant Prioritization Score for Impact Estimate 0.147
- REVEL 0.12
- CADD 5.14
- PolyPhen-2 0.01
- SIFT 0.27
- Most common in the 1KG:CHB population (allele frequency 0.0049)
- Structural context available