R471C (p.Arg471Cys) variant of SLC22A5 (O76082)
R471C (p.Arg471Cys) 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 0.74 / 1. The record also includes population frequency data, published literature, and structural context.
R471C (p.Arg471Cys) variant details
- p.Arg471Cys
- rs749282641
- ClinGen CA3404150
- NCI-TCGA Cosmic COSV5537
- cosmic curated COSV55372
- Pathogenic/Likely pathogenic
- Carnitine deficiency; not provided; Renal carnitine transport defect
- Missense
- Variant Prioritization Score for Impact Estimate 0.744
- REVEL 0.69
- AlphaMissense 0.84
- MetaLR 0.74
- MetaSVM 0.73
- CADD 27.00
- 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 African/African-American population (allele frequency 3e-05)
- Structural context available
- Cited in: Diagnoses of newborns and mothers with carnitine uptake defects through newborn screening. (PMID 20074989)
- Cited in: Primary Carnitine Deficiency. (PMID 22420015)