R133W (p.Arg133Trp) variant of SLC25A20 (O43772)
R133W (p.Arg133Trp) 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 0.71 / 1. The record also includes population frequency data, published literature, and structural context.
R133W (p.Arg133Trp) variant details
- p.Arg133Trp
- rs748394731
- ClinGen CA2387406
- ClinVar RCV001199860
- ClinVar RCV003945915
- Pathogenic/Likely pathogenic
- Carnitine acylcarnitine translocase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.712
- REVEL 0.83
- MetaLR 0.76
- MetaSVM 0.70
- CADD 26.20
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Carnitine acylcarnitine translocase deficiency)
- EBI: Pathogenic (in CACTD)
- UniProt: Pathogenic (in CACTD)
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available
- Cited in: Molecular and functional analysis of SLC25A20 mutations causing carnitine-acylcarnitine translocase deficiency. (PMID 15365988)
- Cited in: Carnitine-Acylcarnitine Translocase Deficiency. (PMID 35862567)