P53L (p.Pro53Leu) variant of SLC22A5 (O76082)
P53L (p.Pro53Leu) 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 0.77 / 1. The record also includes population frequency data, published literature, and structural context.
P53L (p.Pro53Leu) variant details
- p.Pro53Leu
- rs373077213
- ClinGen CA3403800
- ClinVar RCV002636306
- ESP rs373077213
- Uncertain significance
- Renal carnitine transport defect
- Missense
- Variant Prioritization Score for Impact Estimate 0.769
- REVEL 0.77
- CADD 29.00
- PolyPhen-2 0.99
- SIFT 0.01
- ClinVar: Uncertain significance (Renal carnitine transport defect)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Cited in: Primary Carnitine Deficiency. (PMID 22420015)