V25M (p.Val25Met) variant of SLC25A20 (O43772)
V25M (p.Val25Met) 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 0.75 / 1. The record also includes population frequency data, published literature, and structural context.
V25M (p.Val25Met) variant details
- p.Val25Met
- rs777241185
- ClinGen CA352639149
- ClinVar RCV002631594
- ExAC rs777241185
- Uncertain significance
- Carnitine acylcarnitine translocase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.748
- REVEL 0.73
- MetaLR 0.69
- MetaSVM 0.50
- CADD 28.30
- PolyPhen-2 0.95
- SIFT 0.02
- ClinVar: Uncertain significance (Carnitine acylcarnitine translocase deficiency)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:BURUSHO population (allele frequency 0.021)
- Structural context available
- Cited in: Carnitine-Acylcarnitine Translocase Deficiency. (PMID 35862567)