L24V (p.Leu24Val) variant of SLC25A20 (O43772)
L24V (p.Leu24Val) 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.
L24V (p.Leu24Val) variant details
- p.Leu24Val
- rs2106672482
- ClinGen CA352639172
- ClinVar RCV001892597
- Ensembl rs2106672482
- Uncertain significance
- Carnitine acylcarnitine translocase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.274
- REVEL 0.18
- MetaLR 0.26
- MetaSVM -0.78
- CADD 22.10
- PolyPhen-2 0.07
- SIFT 0.07
- ClinVar: Uncertain significance (Carnitine acylcarnitine translocase deficiency)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available
- Cited in: Carnitine-Acylcarnitine Translocase Deficiency. (PMID 35862567)