K5R (p.Lys5Arg) variant of UNG (Uracil-DNA glycosylase)
K5R (p.Lys5Arg) 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.
K5R (p.Lys5Arg) variant details
- p.Lys5Arg
- rs2135880926
- ClinGen CA386468495
- ClinVar RCV001368796
- Ensembl rs2135880926
- Uncertain significance
- Hyper-IgM syndrome type 5
- Missense
- Variant Prioritization Score for Impact Estimate 0.333
- AlphaMissense 0.10
- MetaLR 0.15
- MetaSVM -0.93
- PolyPhen-2 0.01
- SIFT 0.18
- MutPred 0.33
- ClinVar: Uncertain significance (Hyper-IgM syndrome type 5)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available