G9S (p.Gly9Ser) variant of ID3 (Q02535)
G9S (p.Gly9Ser) in ID3 (Q02535) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data.
G9S (p.Gly9Ser) variant details
- p.Gly9Ser
- 1000Genomes rs528654688
- ExAC rs528654688
- TOPMed rs528654688
- gnomAD rs528654688
- Missense
- Variant Prioritization Score for Impact Estimate 0.342
- REVEL 0.11
- MetaLR 0.10
- MetaSVM -0.90
- CADD 20.40
- PolyPhen-2 0.01
- SIFT 1.00
- Most common in the HGDP:MBUTI population (allele frequency 0.083)