A34T (p.Ala34Thr) variant of UNG (Uracil-DNA glycosylase)
A34T (p.Ala34Thr) in UNG (Uracil-DNA glycosylase) is a missense change. Clinical records from ClinVar, EBI, 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 0.34 / 1. The record also includes structural context.
A34T (p.Ala34Thr) variant details
- p.Ala34Thr
- rs886048906
- ClinGen CA10636316
- ClinVar RCV000299867
- TOPMed rs886048906
- Uncertain significance
- Hyper-IgM syndrome type 5
- Missense
- Variant Prioritization Score for Impact Estimate 0.342
- AlphaMissense 0.07
- MetaLR 0.16
- MetaSVM -1.05
- PolyPhen-2 0.00
- SIFT 0.25
- MutPred 0.24
- ClinVar: Uncertain significance (Hyper-IgM syndrome type 5)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available