E132K (p.Glu132Lys) variant of SLC25A20 (O43772)
E132K (p.Glu132Lys) 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 0.87 / 1. The record also includes population frequency data and structural context.
E132K (p.Glu132Lys) variant details
- p.Glu132Lys
- ExAC rs769748915
- TOPMed rs769748915
- gnomAD rs769748915
- Pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.873
- REVEL 0.91
- AlphaMissense 0.99
- MetaLR 0.83
- MetaSVM 0.99
- CADD 28.00
- PolyPhen-2 1.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available