A21G (p.Ala21Gly) variant of UNG (Uracil-DNA glycosylase)
A21G (p.Ala21Gly) 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 0.15 / 1. The record also includes population frequency data and structural context.
A21G (p.Ala21Gly) variant details
- p.Ala21Gly
- TOPMed rs1268732277
- gnomAD rs1268732277
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.15
- REVEL 0.04
- CADD 12.90
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available