G462S (p.Gly462Ser) variant of SLC22A5 (O76082)
G462S (p.Gly462Ser) 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 0.71 / 1. The record also includes published literature and structural context.
G462S (p.Gly462Ser) variant details
- p.Gly462Ser
- rs1193551446
- ClinGen CA360809048
- ClinVar RCV002013934
- gnomAD rs1193551446
- Likely pathogenic
- Renal carnitine transport defect
- Missense
- Variant Prioritization Score for Impact Estimate 0.707
- AlphaMissense 0.92
- MetaLR 0.71
- MetaSVM 0.49
- PolyPhen-2 0.99
- SIFT 0.01
- EVE 0.55
- ClinVar: Likely pathogenic (Renal carnitine transport defect)
- EBI: Likely pathogenic (in CDSP)
- UniProt: Likely pathogenic (in CDSP)
- Structural context available
- Cited in: Primary Carnitine Deficiency. (PMID 22420015)