R37G (p.Arg37Gly) variant of SLC25A20 (O43772)
R37G (p.Arg37Gly) 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 0.82 / 1. The record also includes population frequency data and structural context.
R37G (p.Arg37Gly) variant details
- p.Arg37Gly
- ExAC rs776288377
- TOPMed rs776288377
- gnomAD rs776288377
- Pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.82
- REVEL 0.90
- MetaLR 0.82
- MetaSVM 0.84
- CADD 26.40
- PolyPhen-2 0.98
- SIFT 0.07
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- Structural context available