P46A (p.Pro46Ala) variant of SLC22A5 (O76082)
P46A (p.Pro46Ala) in SLC22A5 (O76082) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Renal carnitine transport defect. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes published literature and structural context.
P46A (p.Pro46Ala) variant details
- p.Pro46Ala
- rs202088921
- ClinGen CA342616
- ClinVar RCV003615732
- ESP rs202088921
- Likely pathogenic
- Renal carnitine transport defect
- Missense
- Variant Prioritization Score for Impact Estimate 0.869
- AlphaMissense 0.80
- MetaLR 0.94
- MetaSVM 1.08
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.67
- ClinVar: Likely pathogenic (Renal carnitine transport defect)
- EBI: Pathogenic (in CDSP)
- UniProt: Pathogenic (in CDSP)
- Structural context available
- Cited in: Primary Carnitine Deficiency. (PMID 22420015)