R275Q (p.Arg275Gln) variant of SLC25A20 (O43772)
R275Q (p.Arg275Gln) 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 0.88 / 1. The record also includes population frequency data, published literature, and structural context.
R275Q (p.Arg275Gln) variant details
- p.Arg275Gln
- rs376342597
- ClinGen CA2387283
- ClinVar RCV001151090
- ESP rs376342597
- Pathogenic/Likely pathogenic
- Carnitine acylcarnitine translocase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.884
- REVEL 0.93
- MetaLR 0.81
- MetaSVM 0.87
- CADD 31.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Carnitine acylcarnitine translocase deficiency)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the East Asian population (allele frequency 5e-05)
- Structural context available
- Cited in: Carnitine-Acylcarnitine Translocase Deficiency. (PMID 35862567)