P107S (p.Pro107Ser) variant of ADH1B (P00325)
P107S (p.Pro107Ser) in ADH1B (P00325) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
P107S (p.Pro107Ser) variant details
- p.Pro107Ser
- ESP rs369184871
- ExAC rs369184871
- TOPMed rs369184871
- gnomAD rs369184871
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.342
- REVEL 0.14
- CADD 15.80
- PolyPhen-2 0.34
- SIFT 0.10
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available