V84L (p.Val84Leu) variant of ADH1B (P00325)
V84L (p.Val84Leu) in ADH1B (P00325) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and structural context.
V84L (p.Val84Leu) variant details
- p.Val84Leu
- ExAC rs762335814
- TOPMed rs762335814
- gnomAD rs762335814
- Missense
- Variant Prioritization Score for Impact Estimate 0.205
- REVEL 0.06
- CADD 16.30
- PolyPhen-2 0.01
- SIFT 0.11
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available