R2G (p.Arg2Gly) variant of SLC22A5 (O76082)
R2G (p.Arg2Gly) in SLC22A5 (O76082) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases; Renal carnitine transport defect. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
R2G (p.Arg2Gly) variant details
- p.Arg2Gly
- rs762330138
- ClinGen CA3403765
- ClinVar RCV001279115
- ClinVar RCV005480655
- Uncertain significance
- Inborn genetic diseases; Renal carnitine transport defect
- Missense
- Variant Prioritization Score for Impact Estimate 0.197
- REVEL 0.08
- CADD 22.20
- PolyPhen-2 0.01
- SIFT 0.29
- ClinVar: Uncertain significance (Inborn genetic diseases; Renal carnitine transport defect)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the East Asian population (allele frequency 0.00013)
- 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)