S28I (p.Ser28Ile) variant of SLC22A5 (O76082)
S28I (p.Ser28Ile) 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 0.77 / 1. The record also includes population frequency data, published literature, and structural context.
S28I (p.Ser28Ile) variant details
- p.Ser28Ile
- rs72552724
- ClinGen CA342613
- ClinVar RCV000022301
- ClinVar RCV001549353
- Pathogenic
- in CDSP
- Missense
- Variant Prioritization Score for Impact Estimate 0.774
- REVEL 0.82
- CADD 25.00
- PolyPhen-2 0.47
- SIFT 0.06
- EBI: Pathogenic (in CDSP)
- UniProt: Pathogenic (in CDSP)
- Most common in the Middle Eastern population (allele frequency 0.00052)
- Structural context available
- Cited in: Functional and molecular studies in primary carnitine deficiency. (PMID 28841266)
- Cited in: Primary Carnitine Deficiency. (PMID 22420015)