T69M (p.Thr69Met) variant of SLC25A20 (O43772)
T69M (p.Thr69Met) in SLC25A20 (O43772) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases; not specified; Carnitine acylcarnitine translocase defi. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data, published literature, and structural context.
T69M (p.Thr69Met) variant details
- p.Thr69Met
- rs138433512
- ClinGen CA2387458
- ClinVar RCV002282823
- ClinVar RCV003101614
- Uncertain significance
- Inborn genetic diseases; not specified; Carnitine acylcarnitine translocase defi
- Missense
- Variant Prioritization Score for Impact Estimate 0.162
- REVEL 0.16
- MetaLR 0.22
- MetaSVM -0.86
- CADD 5.55
- PolyPhen-2 0.26
- SIFT 0.16
- ClinVar: Uncertain significance (Inborn genetic diseases; not specified; Carnitine acylcarnitine)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00057)
- Structural context available
- Cited in: Carnitine-Acylcarnitine Translocase Deficiency. (PMID 35862567)
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)