Q29P (p.Gln29Pro) variant of UNG (Uracil-DNA glycosylase)
Q29P (p.Gln29Pro) 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 0.05 / 1. The record also includes population frequency data and structural context.
Q29P (p.Gln29Pro) variant details
- p.Gln29Pro
- rs765512122
- ClinGen CA6772445
- ClinVar RCV001109468
- ExAC rs765512122
- Uncertain significance
- Hyper-IgM syndrome type 5
- Missense
- Variant Prioritization Score for Impact Estimate 0.0521
- REVEL 0.03
- CADD 0.11
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Uncertain significance (Hyper-IgM syndrome type 5)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.6e-05)
- Structural context available