R133G (p.Arg133Gly) variant of SLC25A20 (O43772)
R133G (p.Arg133Gly) in SLC25A20 (O43772) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in CACTD. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data and structural context.
R133G (p.Arg133Gly) variant details
- p.Arg133Gly
- ExAC rs748394731
- TOPMed rs748394731
- gnomAD rs748394731
- Pathogenic
- in CACTD
- Missense
- Variant Prioritization Score for Impact Estimate 0.676
- REVEL 0.77
- MetaLR 0.74
- MetaSVM 0.62
- CADD 25.70
- PolyPhen-2 1.00
- SIFT 0.06
- EBI: Pathogenic (in CACTD)
- UniProt: Pathogenic (in CACTD)
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available