V88M (p.Val88Met) variant of SLC25A20 (O43772)
V88M (p.Val88Met) 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 0.65 / 1. The record also includes population frequency data, published literature, and structural context.
V88M (p.Val88Met) variant details
- p.Val88Met
- rs145573028
- ClinGen CA2387447
- ClinVar RCV001365460
- ESP rs145573028
- Uncertain significance
- Carnitine acylcarnitine translocase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.647
- REVEL 0.65
- MetaLR 0.44
- MetaSVM -0.08
- CADD 22.30
- PolyPhen-2 0.39
- SIFT 0.52
- ClinVar: Uncertain significance (Carnitine acylcarnitine translocase deficiency)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 7.2e-05)
- Structural context available
- Cited in: Carnitine-Acylcarnitine Translocase Deficiency. (PMID 35862567)