D50E (p.Asp50Glu) variant of ADH1B (P00325)
D50E (p.Asp50Glu) in ADH1B (P00325) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and structural context.
D50E (p.Asp50Glu) variant details
- p.Asp50Glu
- TOPMed rs1301497066
- gnomAD rs1301497066
- Missense
- Variant Prioritization Score for Impact Estimate 0.43
- REVEL 0.21
- CADD 21.80
- PolyPhen-2 0.23
- SIFT 0.04
- Most common in the African/African-American population (allele frequency 6e-05)
- Structural context available