S120P (p.Ser120Pro) variant of SLC25A20 (O43772)
S120P (p.Ser120Pro) in SLC25A20 (O43772) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Inborn genetic diseases; Carnitine acylcarnitine translocase deficiency; not spe. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data, published literature, and structural context.
S120P (p.Ser120Pro) variant details
- p.Ser120Pro
- rs149174359
- ClinGen CA2387414
- ClinVar RCV000293988
- ClinVar RCV000507911
- Conflicting interpretations
- Inborn genetic diseases; Carnitine acylcarnitine translocase deficiency; not spe
- Missense
- Variant Prioritization Score for Impact Estimate 0.817
- REVEL 0.93
- MetaLR 0.78
- MetaSVM 0.85
- CADD 27.60
- PolyPhen-2 0.97
- SIFT 0.07
- ClinVar: Conflicting classifications of pathogenicity (Inborn genetic diseases; Carnitine acylcarnitine translocase def)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.0005)
- 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)