G81R (p.Gly81Arg) variant of SLC25A20 (O43772)
G81R (p.Gly81Arg) in SLC25A20 (O43772) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Carnitine acylcarnitine translocase deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data, published literature, and structural context.
G81R (p.Gly81Arg) variant details
- p.Gly81Arg
- rs778739484
- ClinGen CA2387450
- ClinVar RCV003388421
- ExAC rs778739484
- Likely pathogenic
- Carnitine acylcarnitine translocase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.753
- REVEL 0.81
- MetaLR 0.56
- MetaSVM 0.18
- CADD 24.80
- PolyPhen-2 1.00
- SIFT 0.17
- ClinVar: Likely pathogenic (Carnitine acylcarnitine translocase deficiency)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Cited in: Carnitine-Acylcarnitine Translocase Deficiency. (PMID 35862567)