G12S (p.Gly12Ser) variant of SLC22A5 (O76082)
G12S (p.Gly12Ser) in SLC22A5 (O76082) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance in the context of in CDSP. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data, published literature, and structural context.
G12S (p.Gly12Ser) variant details
- p.Gly12Ser
- rs139203363
- ClinGen CA312960
- ClinVar RCV000022295
- ClinVar RCV000786404
- Uncertain significance
- in CDSP
- Missense
- Variant Prioritization Score for Impact Estimate 0.823
- REVEL 0.95
- AlphaMissense 0.53
- MetaLR 0.83
- MetaSVM 0.97
- CADD 28.30
- PolyPhen-2 1.00
- EBI: Variant of uncertain significance (in CDSP)
- UniProt: Uncertain significance (in CDSP)
- Most common in the HGDP:SARDINIAN population (allele frequency 0.019)
- Structural context available
- Cited in: Molecular spectrum of SLC22A5 (OCTN2) gene mutations detected in 143 subjects evaluated for systemic carnitine… (PMID 20574985)
- Cited in: Functional and molecular studies in primary carnitine deficiency. (PMID 28841266)