G28S (p.Gly28Ser) variant of SLC25A20 (O43772)
G28S (p.Gly28Ser) in SLC25A20 (O43772) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data and structural context.
G28S (p.Gly28Ser) variant details
- p.Gly28Ser
- ExAC rs747335514
- TOPMed rs747335514
- gnomAD rs747335514
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.719
- REVEL 0.71
- MetaLR 0.61
- MetaSVM 0.25
- CADD 29.60
- PolyPhen-2 1.00
- SIFT 0.46
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.3e-05)
- Structural context available