Q4K (p.Gln4Lys) variant of SLC25A20 (O43772)
Q4K (p.Gln4Lys) 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 0.16 / 1. The record also includes population frequency data and structural context.
Q4K (p.Gln4Lys) variant details
- p.Gln4Lys
- ExAC rs756998699
- TOPMed rs756998699
- gnomAD rs756998699
- Pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.159
- REVEL 0.16
- MetaLR 0.24
- MetaSVM -0.87
- CADD 3.66
- PolyPhen-2 0.00
- SIFT 0.26
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available