R178Q (p.Arg178Gln) variant of SLC25A20 (O43772)
R178Q (p.Arg178Gln) in SLC25A20 (O43772) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Carnitine acylcarnitine translocase deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes population frequency data, published literature, and structural context.
R178Q (p.Arg178Gln) variant details
- p.Arg178Gln
- rs754563147
- ClinGen CA2387379
- ClinVar RCV002035023
- ExAC rs754563147
- Pathogenic/Likely pathogenic
- Carnitine acylcarnitine translocase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.893
- REVEL 0.93
- MetaLR 0.85
- MetaSVM 0.96
- CADD 33.00
- PolyPhen-2 1.00
- SIFT 0.18
- ClinVar: Pathogenic/Likely pathogenic (Carnitine acylcarnitine translocase deficiency)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available
- Cited in: Carnitine-Acylcarnitine Translocase Deficiency. (PMID 35862567)