G168D (p.Gly168Asp) variant of SLC22A5 (O76082)
G168D (p.Gly168Asp) 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 0.91 / 1. The record also includes published literature and structural context.
G168D (p.Gly168Asp) variant details
- p.Gly168Asp
- rs1752440697
- ClinGen CA360804505
- ClinVar RCV001208797
- Ensembl rs1752440697
- Likely pathogenic
- Renal carnitine transport defect
- Missense
- Variant Prioritization Score for Impact Estimate 0.91
- AlphaMissense 0.99
- MetaLR 0.90
- MetaSVM 1.06
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.89
- ClinVar: Likely pathogenic (Renal carnitine transport defect)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Primary Carnitine Deficiency. (PMID 22420015)