P37H (p.Pro37His) variant of UNG (Uracil-DNA glycosylase)
P37H (p.Pro37His) 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 0.32 / 1. The record also includes structural context.
P37H (p.Pro37His) variant details
- p.Pro37His
- rs1205349419
- ClinGen CA386468894
- ClinVar RCV002027440
- TOPMed rs1205349419
- Uncertain significance
- Hyper-IgM syndrome type 5
- Missense
- Variant Prioritization Score for Impact Estimate 0.317
- AlphaMissense 0.08
- MetaLR 0.14
- MetaSVM -0.96
- PolyPhen-2 0.00
- SIFT 0.03
- MutPred 0.39
- ClinVar: Uncertain significance (Hyper-IgM syndrome type 5)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available