V122I (p.Val122Ile) variant of SLC25A20 (O43772)
V122I (p.Val122Ile) in SLC25A20 (O43772) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases; Carnitine acylcarnitine translocase deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
V122I (p.Val122Ile) variant details
- p.Val122Ile
- rs150419695
- ClinGen CA2387410
- ClinVar RCV001068611
- ClinVar RCV002554550
- Uncertain significance
- Inborn genetic diseases; Carnitine acylcarnitine translocase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.247
- REVEL 0.19
- MetaLR 0.19
- MetaSVM -0.85
- CADD 14.30
- PolyPhen-2 0.08
- SIFT 0.28
- ClinVar: Uncertain significance (Inborn genetic diseases; Carnitine acylcarnitine translocase def)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available
- Cited in: Carnitine-Acylcarnitine Translocase Deficiency. (PMID 35862567)
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)