R471P (p.Arg471Pro) variant of SLC22A5 (O76082)
R471P (p.Arg471Pro) in SLC22A5 (O76082) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Renal carnitine transport defect. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data, published literature, and structural context.
R471P (p.Arg471Pro) variant details
- p.Arg471Pro
- rs386134223
- ClinGen CA360809223
- ClinVar RCV001951258
- UniProt VAR 066845
- Pathogenic/Likely pathogenic
- Renal carnitine transport defect
- Missense
- Variant Prioritization Score for Impact Estimate 0.823
- REVEL 0.82
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Renal carnitine transport defect)
- EBI: Pathogenic (in CDSP)
- UniProt: Pathogenic (in CDSP)
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Cited in: Genotype-phenotype correlation in primary carnitine deficiency. (PMID 21922592)
- Cited in: Functional and molecular studies in primary carnitine deficiency. (PMID 28841266)