E12Q (p.Glu12Gln) variant of ID3 (Q02535)
E12Q (p.Glu12Gln) in ID3 (Q02535) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data.
E12Q (p.Glu12Gln) variant details
- p.Glu12Gln
- ExAC rs765906626
- TOPMed rs765906626
- gnomAD rs765906626
- Missense
- Variant Prioritization Score for Impact Estimate 0.381
- REVEL 0.16
- MetaLR 0.26
- MetaSVM -0.64
- CADD 21.90
- PolyPhen-2 0.07
- SIFT 0.14
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)