G12D (p.Gly12Asp) variant of SLC22A5 (O76082)
G12D (p.Gly12Asp) 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 0.87 / 1. The record also includes population frequency data, published literature, and structural context.
G12D (p.Gly12Asp) variant details
- p.Gly12Asp
- rs886043206
- ClinGen CA10605238
- ClinVar RCV000363931
- ClinVar RCV001232748
- Uncertain significance
- Renal carnitine transport defect
- Missense
- Variant Prioritization Score for Impact Estimate 0.87
- REVEL 0.94
- CADD 31.00
- PolyPhen-2 0.96
- SIFT 0.04
- ClinVar: Uncertain significance (Renal carnitine transport defect)
- EBI: Variant of uncertain significance (in CDSP)
- UniProt: Uncertain significance (in CDSP)
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- Structural context available
- Cited in: Primary Carnitine Deficiency. (PMID 22420015)