P96A (p.Pro96Ala) variant of ADH1B (P00325)
P96A (p.Pro96Ala) in ADH1B (P00325) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
P96A (p.Pro96Ala) variant details
- p.Pro96Ala
- ESP rs142065383
- ExAC rs142065383
- TOPMed rs142065383
- gnomAD rs142065383
- Missense
- Variant Prioritization Score for Impact Estimate 0.364
- REVEL 0.21
- CADD 22.40
- PolyPhen-2 0.20
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available