S12P (p.Ser12Pro) variant of UNG (Uracil-DNA glycosylase)
S12P (p.Ser12Pro) in UNG (Uracil-DNA glycosylase) 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 0.24 / 1. The record also includes population frequency data and structural context.
S12P (p.Ser12Pro) variant details
- p.Ser12Pro
- ExAC rs769496984
- TOPMed rs769496984
- gnomAD rs769496984
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.239
- REVEL 0.19
- CADD 22.70
- PolyPhen-2 0.07
- SIFT 0.01
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Ashkenazi Jewish population (allele frequency 0.00012)
- Structural context available