Q238R (p.Gln238Arg) variant of SLC25A20 (O43772)
Q238R (p.Gln238Arg) in SLC25A20 (O43772) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided; Carnitine acylcarnitine translocase deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes published literature and structural context.
Q238R (p.Gln238Arg) variant details
- p.Gln238Arg
- rs28934589
- ClinGen CA121918
- ClinVar RCV000012921
- ClinVar RCV000153966
- Pathogenic
- not provided; Carnitine acylcarnitine translocase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.891
- AlphaMissense 0.99
- MetaLR 0.85
- MetaSVM 0.98
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.83
- ClinVar: Pathogenic (not provided; Carnitine acylcarnitine translocase deficiency)
- EBI: Pathogenic (in CACTD)
- UniProt: Pathogenic (in CACTD)
- Structural context available
- Cited in: A novel molecular defect of the carnitine acylcarnitine translocase gene in a Saudi patient. (PMID 12859414)
- Cited in: Response to therapy in carnitine/acylcarnitine translocase (CACT) deficiency due to a novel missense mutation. (PMID 15057979)