G9C (p.Gly9Cys) variant of ID3 (Q02535)
G9C (p.Gly9Cys) in ID3 (Q02535) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data.
G9C (p.Gly9Cys) variant details
- p.Gly9Cys
- 1000Genomes rs528654688
- ExAC rs528654688
- TOPMed rs528654688
- gnomAD rs528654688
- Missense
- Variant Prioritization Score for Impact Estimate 0.471
- REVEL 0.33
- MetaLR 0.26
- MetaSVM -0.67
- CADD 24.30
- PolyPhen-2 0.05
- SIFT 0.01
- Most common in the REMAINING population (allele frequency 1.7e-05)