S109I (p.Ser109Ile) variant of ADH1B (P00325)
S109I (p.Ser109Ile) in ADH1B (P00325) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
S109I (p.Ser109Ile) variant details
- p.Ser109Ile
- rs560773951
- ClinGen CA3020005
- ClinVar RCV004255877
- 1000Genomes rs560773951
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.249
- REVEL 0.05
- CADD 18.30
- PolyPhen-2 0.65
- SIFT 0.02
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available