R52Q (p.Arg52Gln) variant of ID3 (Q02535)
R52Q (p.Arg52Gln) in ID3 (Q02535) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data and structural context.
R52Q (p.Arg52Gln) variant details
- p.Arg52Gln
- ExAC rs769841287
- TOPMed rs769841287
- gnomAD rs769841287
- Missense
- Variant Prioritization Score for Impact Estimate 0.691
- REVEL 0.61
- MetaLR 0.91
- MetaSVM 0.86
- CADD 24.90
- PolyPhen-2 0.05
- SIFT 0.04
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available