G152D (p.Gly152Asp) variant of SLC22A5 (O76082)
G152D (p.Gly152Asp) in SLC22A5 (O76082) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Inborn genetic diseases; Renal carnitine transport defect. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes population frequency data, published literature, and structural context.
G152D (p.Gly152Asp) variant details
- p.Gly152Asp
- rs747821417
- ClinGen CA3403893
- ClinVar RCV000550851
- ClinVar RCV000623583
- Pathogenic/Likely pathogenic
- Inborn genetic diseases; Renal carnitine transport defect
- Missense
- Variant Prioritization Score for Impact Estimate 0.879
- REVEL 0.95
- CADD 27.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Inborn genetic diseases; Renal carnitine transport defect)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)