E12K (p.Glu12Lys) variant of ID3 (Q02535)
E12K (p.Glu12Lys) in ID3 (Q02535) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data.
E12K (p.Glu12Lys) variant details
- p.Glu12Lys
- ExAC rs765906626
- TOPMed rs765906626
- gnomAD rs765906626
- Missense
- Variant Prioritization Score for Impact Estimate 0.346
- REVEL 0.10
- MetaLR 0.18
- MetaSVM -0.87
- CADD 21.00
- PolyPhen-2 0.04
- SIFT 1.00
- Most common in the HGDP:YAKUT population (allele frequency 0.02)