A16V (p.Ala16Val) variant of SLC25A20 (O43772)
A16V (p.Ala16Val) 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; not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data, published literature, and structural context.
A16V (p.Ala16Val) variant details
- p.Ala16Val
- rs2083928547
- ClinGen CA352639318
- ClinVar RCV001144985
- ClinVar RCV003331051
- Uncertain significance
- Carnitine acylcarnitine translocase deficiency; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.85
- REVEL 0.89
- MetaLR 0.75
- MetaSVM 0.66
- CADD 32.00
- PolyPhen-2 0.95
- SIFT 0.00
- ClinVar: Uncertain significance (Carnitine acylcarnitine translocase deficiency; not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- Cited in: Carnitine-Acylcarnitine Translocase Deficiency. (PMID 35862567)