P96T (p.Pro96Thr) variant of ADH1B (P00325)
P96T (p.Pro96Thr) in ADH1B (P00325) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
P96T (p.Pro96Thr) variant details
- p.Pro96Thr
- ESP rs142065383
- ExAC rs142065383
- TOPMed rs142065383
- gnomAD rs142065383
- Missense
- Variant Prioritization Score for Impact Estimate 0.399
- REVEL 0.25
- CADD 24.30
- PolyPhen-2 0.93
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available