R60Q (p.Arg60Gln) variant of SLC25A20 (O43772)
R60Q (p.Arg60Gln) 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; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
R60Q (p.Arg60Gln) variant details
- p.Arg60Gln
- rs761233598
- ClinGen CA2387483
- ClinVar RCV001144984
- ClinVar RCV002557104
- Uncertain significance
- Carnitine acylcarnitine translocase deficiency; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.451
- REVEL 0.48
- MetaLR 0.53
- MetaSVM -0.12
- CADD 23.30
- PolyPhen-2 0.53
- SIFT 0.06
- ClinVar: Uncertain significance (Carnitine acylcarnitine translocase deficiency; Inborn genetic d)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.00019)
- 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)