A76P (p.Ala76Pro) variant of SLC25A20 (O43772)
A76P (p.Ala76Pro) in SLC25A20 (O43772) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Carnitine acylcarnitine translocase deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data, published literature, and structural context.
A76P (p.Ala76Pro) variant details
- p.Ala76Pro
- rs150516570
- ClinGen CA2387454
- ClinVar RCV000807267
- ClinVar RCV000998073
- Uncertain significance
- not provided; Carnitine acylcarnitine translocase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.635
- REVEL 0.67
- MetaLR 0.52
- MetaSVM -0.05
- CADD 24.80
- PolyPhen-2 0.94
- SIFT 0.01
- ClinVar: Uncertain significance (not provided; Carnitine acylcarnitine translocase deficiency)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:YRI population (allele frequency 0.0086)
- Structural context available
- Cited in: Carnitine-Acylcarnitine Translocase Deficiency. (PMID 35862567)