Q4E (p.Gln4Glu) variant of SLC25A20 (O43772)
Q4E (p.Gln4Glu) in SLC25A20 (O43772) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data and structural context.
Q4E (p.Gln4Glu) variant details
- p.Gln4Glu
- ExAC rs756998699
- TOPMed rs756998699
- gnomAD rs756998699
- Pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.166
- REVEL 0.19
- MetaLR 0.24
- MetaSVM -0.84
- CADD 1.00
- PolyPhen-2 0.00
- SIFT 0.55
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the South Asian population (allele frequency 7.4e-05)
- Structural context available