A70V (p.Ala70Val) variant of ADH1B (P00325)
A70V (p.Ala70Val) in ADH1B (P00325) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
A70V (p.Ala70Val) variant details
- p.Ala70Val
- ExAC rs777819335
- TOPMed rs777819335
- gnomAD rs777819335
- Missense
- Variant Prioritization Score for Impact Estimate 0.217
- REVEL 0.10
- CADD 17.50
- PolyPhen-2 0.52
- SIFT 0.01
- Most common in the Latino/Admixed American population (allele frequency 0.00013)
- Structural context available