G462D (p.Gly462Asp) variant of SLC22A5 (O76082)
G462D (p.Gly462Asp) in SLC22A5 (O76082) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Renal carnitine transport defect. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data, published literature, and structural context.
G462D (p.Gly462Asp) variant details
- p.Gly462Asp
- rs2126791535
- ClinGen CA360809056
- ClinVar RCV001783755
- Ensembl rs2126791535
- Likely pathogenic
- Renal carnitine transport defect
- Missense
- Variant Prioritization Score for Impact Estimate 0.68
- REVEL 0.61
- CADD 25.60
- PolyPhen-2 0.91
- SIFT 0.00
- ClinVar: Likely pathogenic (Renal carnitine transport defect)
- EBI: Likely pathogenic (in CDSP)
- UniProt: Likely pathogenic (in CDSP)
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: Primary Carnitine Deficiency. (PMID 22420015)