P26Q (p.Pro26Gln) variant of UNG (Uracil-DNA glycosylase)
P26Q (p.Pro26Gln) 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 0.33 / 1. The record also includes structural context.
P26Q (p.Pro26Gln) variant details
- p.Pro26Gln
- rs775369845
- ClinGen CA386468754
- ClinVar RCV002755624
- ExAC rs775369845
- Uncertain significance
- Hyper-IgM syndrome type 5
- Missense
- Variant Prioritization Score for Impact Estimate 0.334
- AlphaMissense 0.07
- MetaLR 0.13
- MetaSVM -0.92
- PolyPhen-2 0.33
- SIFT 0.07
- MutPred 0.32
- ClinVar: Uncertain significance (Hyper-IgM syndrome type 5)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available