P42S (p.Pro42Ser) variant of SLC25A20 (O43772)
P42S (p.Pro42Ser) in SLC25A20 (O43772) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Carnitine acylcarnitine translocase deficiency; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data and structural context.
P42S (p.Pro42Ser) variant details
- p.Pro42Ser
- ESP rs367835261
- ExAC rs367835261
- TOPMed rs367835261
- gnomAD rs367835261
- Uncertain significance
- Carnitine acylcarnitine translocase deficiency; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.552
- REVEL 0.52
- MetaLR 0.47
- MetaSVM -0.15
- CADD 24.60
- PolyPhen-2 0.88
- SIFT 0.07
- ClinVar: Uncertain significance (Carnitine acylcarnitine translocase deficiency; Inborn genetic d)
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00029)
- Structural context available