R2P (p.Arg2Pro) variant of SLC22A5 (O76082)
R2P (p.Arg2Pro) 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 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
R2P (p.Arg2Pro) variant details
- p.Arg2Pro
- rs773282630
- ClinGen CA3403766
- ClinVar RCV002286654
- ExAC rs773282630
- Uncertain significance
- Renal carnitine transport defect
- Missense
- Variant Prioritization Score for Impact Estimate 0.296
- REVEL 0.27
- CADD 22.90
- PolyPhen-2 0.02
- SIFT 0.07
- 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 8.8e-05)
- Structural context available
- Cited in: Primary Carnitine Deficiency. (PMID 22420015)