G28C (p.Gly28Cys) variant of SLC25A20 (O43772)
G28C (p.Gly28Cys) in SLC25A20 (O43772) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Carnitine acylcarnitine translocase deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data, published literature, and structural context.
G28C (p.Gly28Cys) variant details
- p.Gly28Cys
- rs747335514
- ClinGen CA2387519
- ClinVar RCV001762807
- ClinVar RCV002539863
- Conflicting interpretations
- Carnitine acylcarnitine translocase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.813
- REVEL 0.87
- MetaLR 0.64
- MetaSVM 0.37
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.10
- ClinVar: Conflicting classifications of pathogenicity (Carnitine acylcarnitine translocase deficiency)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.00047)
- Structural context available
- Cited in: Carnitine-Acylcarnitine Translocase Deficiency. (PMID 35862567)