R169P (p.Arg169Pro) variant of SLC22A5 (O76082)
R169P (p.Arg169Pro) in SLC22A5 (O76082) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Renal carnitine transport defect. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes published literature and structural context.
R169P (p.Arg169Pro) variant details
- p.Arg169Pro
- rs121908889
- ClinGen CA360804515
- ClinVar RCV001216413
- UniProt VAR 079655
- Pathogenic
- Renal carnitine transport defect
- Missense
- Variant Prioritization Score for Impact Estimate 0.91
- AlphaMissense 0.90
- MetaLR 0.88
- MetaSVM 1.03
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.88
- ClinVar: Pathogenic (Renal carnitine transport defect)
- EBI: Pathogenic (in CDSP)
- UniProt: Pathogenic (in CDSP)
- Structural context available
- Cited in: Functional and molecular studies in primary carnitine deficiency. (PMID 28841266)
- Cited in: Primary Carnitine Deficiency. (PMID 22420015)