R19Q (p.Arg19Gln) variant of UNG (Uracil-DNA glycosylase)
R19Q (p.Arg19Gln) in UNG (Uracil-DNA glycosylase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
R19Q (p.Arg19Gln) variant details
- p.Arg19Gln
- gnomAD 12-109097735-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.318
- REVEL 0.10
- CADD 28.10
- PolyPhen-2 0.47
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)
- Structural context available
- Literature evidence available