A21P (p.Ala21Pro) variant of UNG (Uracil-DNA glycosylase)
A21P (p.Ala21Pro) 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 0.06 / 1. The record also includes population frequency data and structural context.
A21P (p.Ala21Pro) variant details
- p.Ala21Pro
- TOPMed rs1435043915
- gnomAD rs1435043915
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.0616
- REVEL 0.06
- CADD 1.93
- PolyPhen-2 0.00
- SIFT 0.14
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)
- Structural context available