R19L (p.Arg19Leu) variant of UNG (Uracil-DNA glycosylase)
R19L (p.Arg19Leu) in UNG (Uracil-DNA glycosylase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
R19L (p.Arg19Leu) variant details
- p.Arg19Leu
- gnomAD 12-109097735-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.286
- REVEL 0.09
- CADD 23.50
- PolyPhen-2 0.06
- SIFT 0.06
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available