E38D (p.Glu38Asp) variant of UNG (Uracil-DNA glycosylase)
E38D (p.Glu38Asp) in UNG (Uracil-DNA glycosylase) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Hyper-IgM syndrome type 5. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
E38D (p.Glu38Asp) variant details
- p.Glu38Asp
- TOPMed rs1442284730
- gnomAD rs1442284730
- Uncertain significance
- Hyper-IgM syndrome type 5
- Missense
- Variant Prioritization Score for Impact Estimate 0.223
- REVEL 0.07
- CADD 7.90
- PolyPhen-2 0.00
- SIFT 0.22
- ClinVar: Uncertain significance (Hyper-IgM syndrome type 5)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available