P53R (p.Pro53Arg) variant of SLC22A5 (O76082)
P53R (p.Pro53Arg) in SLC22A5 (O76082) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Renal carnitine transport defect. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data, published literature, and structural context.
P53R (p.Pro53Arg) variant details
- p.Pro53Arg
- rs373077213
- ClinGen CA3403801
- ClinVar RCV002286652
- ESP rs373077213
- Uncertain significance
- Renal carnitine transport defect
- Missense
- Variant Prioritization Score for Impact Estimate 0.808
- REVEL 0.84
- CADD 28.60
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Renal carnitine transport defect)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available
- Cited in: Primary Carnitine Deficiency. (PMID 22420015)