R28Q (p.Arg28Gln) variant of ID3 (Q02535)
R28Q (p.Arg28Gln) in ID3 (Q02535) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data.
R28Q (p.Arg28Gln) variant details
- p.Arg28Gln
- 1000Genomes rs34462407
- ESP rs34462407
- ExAC rs34462407
- TOPMed rs34462407
- Missense
- Variant Prioritization Score for Impact Estimate 0.358
- REVEL 0.14
- MetaLR 0.10
- MetaSVM -0.84
- CADD 22.40
- PolyPhen-2 0.05
- SIFT 0.02
- Most common in the HGDP:MANDENKA population (allele frequency 0.075)