D50G (p.Asp50Gly) variant of ADH1B (P00325)
D50G (p.Asp50Gly) in ADH1B (P00325) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data and structural context.
D50G (p.Asp50Gly) variant details
- p.Asp50Gly
- gnomAD rs1347454582
- Missense
- Variant Prioritization Score for Impact Estimate 0.63
- REVEL 0.65
- CADD 27.10
- PolyPhen-2 0.98
- SIFT 0.00
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available