D231H (p.Asp231His) variant of SLC25A20 (O43772)
D231H (p.Asp231His) in SLC25A20 (O43772) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Carnitine acylcarnitine translocase deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes population frequency data, published literature, and structural context.
D231H (p.Asp231His) variant details
- p.Asp231His
- rs577331691
- ClinGen CA73980967
- ClinVar RCV000801119
- UniProt VAR 021819
- Pathogenic/Likely pathogenic
- Carnitine acylcarnitine translocase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.89
- REVEL 0.94
- MetaLR 0.89
- MetaSVM 1.05
- CADD 27.90
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Carnitine acylcarnitine translocase deficiency)
- EBI: Pathogenic (in CACTD)
- UniProt: Pathogenic (in CACTD)
- Most common in the 1KG:BEB population (allele frequency 0.0051)
- Structural context available
- Cited in: Molecular and functional analysis of SLC25A20 mutations causing carnitine-acylcarnitine translocase deficiency. (PMID 15365988)
- Cited in: Carnitine-Acylcarnitine Translocase Deficiency. (PMID 35862567)