S109N (p.Ser109Asn) variant of ADH1B (P00325)
S109N (p.Ser109Asn) 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 0.21 / 1. The record also includes population frequency data and structural context.
S109N (p.Ser109Asn) variant details
- p.Ser109Asn
- 1000Genomes rs560773951
- ExAC rs560773951
- TOPMed rs560773951
- gnomAD rs560773951
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.213
- REVEL 0.08
- CADD 5.24
- PolyPhen-2 0.00
- SIFT 0.32
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available