P10S (p.Pro10Ser) variant of SLC25A20 (O43772)
P10S (p.Pro10Ser) 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 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
P10S (p.Pro10Ser) variant details
- p.Pro10Ser
- rs753219087
- ClinGen CA2387533
- ClinVar RCV001146939
- ExAC rs753219087
- Uncertain significance
- Carnitine acylcarnitine translocase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.511
- REVEL 0.46
- MetaLR 0.39
- MetaSVM -0.45
- CADD 23.60
- PolyPhen-2 0.39
- SIFT 0.04
- ClinVar: Uncertain significance (Carnitine acylcarnitine translocase deficiency)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- Cited in: Carnitine-Acylcarnitine Translocase Deficiency. (PMID 35862567)