R471S (p.Arg471Ser) variant of SLC22A5 (O76082)
R471S (p.Arg471Ser) in SLC22A5 (O76082) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of not provided; Renal carnitine transport defect. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes published literature and structural context.
R471S (p.Arg471Ser) variant details
- p.Arg471Ser
- rs749282641
- ClinGen CA360809214
- ClinVar RCV000513638
- ClinVar RCV001063048
- Likely pathogenic
- not provided; Renal carnitine transport defect
- Missense
- Variant Prioritization Score for Impact Estimate 0.787
- AlphaMissense 0.84
- MetaLR 0.74
- MetaSVM 0.73
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.70
- ClinVar: Likely pathogenic (not provided; Renal carnitine transport defect)
- EBI: Pathogenic (in CDSP)
- UniProt: Pathogenic (in CDSP)
- Structural context available
- Cited in: Primary Carnitine Deficiency. (PMID 22420015)