L63V (p.Leu63Val) variant of SLC25A20 (O43772)
L63V (p.Leu63Val) 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 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
L63V (p.Leu63Val) variant details
- p.Leu63Val
- rs1044481006
- ClinGen CA73998456
- ClinVar RCV001963565
- TOPMed rs1044481006
- Uncertain significance
- Carnitine acylcarnitine translocase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.272
- REVEL 0.18
- MetaLR 0.19
- MetaSVM -0.88
- CADD 17.80
- PolyPhen-2 0.02
- SIFT 1.00
- ClinVar: Uncertain significance (Carnitine acylcarnitine translocase deficiency)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available
- Cited in: Carnitine-Acylcarnitine Translocase Deficiency. (PMID 35862567)