M1V (p.Met1Val) variant of SLC25A20 (O43772)
M1V (p.Met1Val) in SLC25A20 (O43772) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Carnitine acylcarnitine translocase deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
M1V (p.Met1Val) variant details
- p.Met1Val
- rs745490594
- ClinGen CA2387535
- ClinVar RCV003513474
- Pathogenic
- Carnitine acylcarnitine translocase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.529
- MetaLR 0.60
- MetaSVM 0.20
- PolyPhen-2 0.01
- SIFT 0.07
- MutPred 0.98
- ClinVar: Pathogenic (Carnitine acylcarnitine translocase deficiency)
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available
- Cited in: Carnitine-Acylcarnitine Translocase Deficiency. (PMID 35862567)