D126Y (p.Asp126Tyr) variant of ADH1B (P00325)
D126Y (p.Asp126Tyr) 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.
D126Y (p.Asp126Tyr) variant details
- p.Asp126Tyr
- gnomAD rs1274984417
- Missense
- Variant Prioritization Score for Impact Estimate 0.424
- REVEL 0.20
- CADD 25.50
- PolyPhen-2 0.98
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 8.1e-06)
- Structural context available