N32S (p.Asn32Ser) variant of SLC22A5 (O76082)
N32S (p.Asn32Ser) in SLC22A5 (O76082) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in CDSP. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
N32S (p.Asn32Ser) variant details
- p.Asn32Ser
- rs72552725
- ClinGen CA342615
- ClinVar RCV000022302
- ClinVar RCV000414281
- Pathogenic
- in CDSP
- Missense
- Variant Prioritization Score for Impact Estimate 0.464
- REVEL 0.44
- CADD 24.70
- PolyPhen-2 0.44
- SIFT 0.01
- EBI: Pathogenic (in CDSP)
- UniProt: Pathogenic (in CDSP)
- Most common in the South Asian population (allele frequency 0.00042)
- Structural context available
- Cited in: Expanded newborn screening identifies maternal primary carnitine deficiency. (PMID 17126586)
- Cited in: Molecular spectrum of SLC22A5 (OCTN2) gene mutations detected in 143 subjects evaluated for systemic carnitine… (PMID 20574985)