P96S (p.Pro96Ser) variant of ADH1B (P00325)
P96S (p.Pro96Ser) 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.
P96S (p.Pro96Ser) variant details
- p.Pro96Ser
- ESP rs142065383
- ExAC rs142065383
- TOPMed rs142065383
- gnomAD rs142065383
- Missense
- Variant Prioritization Score for Impact Estimate 0.364
- REVEL 0.20
- CADD 23.00
- PolyPhen-2 0.54
- SIFT 0.06
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available