P46S (p.Pro46Ser) variant of SLC22A5 (O76082)
P46S (p.Pro46Ser) in SLC22A5 (O76082) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Carnitine deficiency; not provided; Renal carnitine transport defect. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data, published literature, and structural context.
P46S (p.Pro46Ser) variant details
- p.Pro46Ser
- rs202088921
- ClinGen CA312966
- ClinVar RCV000173299
- ClinVar RCV000186152
- Pathogenic/Likely pathogenic
- Carnitine deficiency; not provided; Renal carnitine transport defect
- Missense
- Variant Prioritization Score for Impact Estimate 0.846
- REVEL 0.90
- AlphaMissense 0.80
- MetaLR 0.94
- MetaSVM 1.08
- CADD 26.30
- PolyPhen-2 1.00
- ClinVar: Pathogenic/Likely pathogenic (Carnitine deficiency; not provided; Renal carnitine transport de)
- EBI: Pathogenic (in CDSP)
- UniProt: Pathogenic (in CDSP)
- Most common in the REMAINING population (allele frequency 0.00096)
- Structural context available
- Cited in: Expanded newborn screening identifies maternal primary carnitine deficiency. (PMID 17126586)
- Cited in: Maternal systemic primary carnitine deficiency uncovered by newborn screening: clinical, biochemical, and molecular… (PMID 20027113)