P31S (p.Pro31Ser) variant of ADH1B (P00325)
P31S (p.Pro31Ser) 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 0.37 / 1. The record also includes population frequency data and structural context.
P31S (p.Pro31Ser) variant details
- p.Pro31Ser
- ExAC rs775325816
- TOPMed rs775325816
- gnomAD rs775325816
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.369
- REVEL 0.22
- CADD 23.50
- PolyPhen-2 0.60
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 1.9e-05)
- Structural context available