G28D (p.Gly28Asp) variant of SLC25A20 (O43772)
G28D (p.Gly28Asp) in SLC25A20 (O43772) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Carnitine acylcarnitine translocase deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes published literature and structural context.
G28D (p.Gly28Asp) variant details
- p.Gly28Asp
- rs2106672462
- ClinGen CA352639079
- ClinVar RCV001901126
- Ensembl rs2106672462
- Uncertain significance
- Carnitine acylcarnitine translocase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.799
- AlphaMissense 1.00
- MetaLR 0.73
- MetaSVM 0.68
- PolyPhen-2 1.00
- SIFT 0.06
- EVE 0.89
- ClinVar: Uncertain significance (Carnitine acylcarnitine translocase deficiency)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Carnitine-Acylcarnitine Translocase Deficiency. (PMID 35862567)