G70E (p.Gly70Glu) variant of SLC25A20 (O43772)
G70E (p.Gly70Glu) in SLC25A20 (O43772) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data and structural context.
G70E (p.Gly70Glu) variant details
- p.Gly70Glu
- ExAC rs776327302
- TOPMed rs776327302
- gnomAD rs776327302
- Missense
- Variant Prioritization Score for Impact Estimate 0.853
- REVEL 0.91
- MetaLR 0.81
- MetaSVM 0.89
- CADD 24.60
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the East Asian population (allele frequency 0.00013)
- Structural context available