P143L (p.Pro143Leu) variant of SLC22A5 (O76082)
P143L (p.Pro143Leu) in SLC22A5 (O76082) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Carnitine deficiency; not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data, published literature, and structural context.
P143L (p.Pro143Leu) variant details
- p.Pro143Leu
- rs1178584184
- ClinGen CA360803554
- ClinVar RCV000508023
- ClinVar RCV000673165
- Pathogenic/Likely pathogenic
- not provided; Carnitine deficiency; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.608
- REVEL 0.51
- AlphaMissense 0.77
- MetaLR 0.47
- MetaSVM 0.03
- CADD 25.40
- PolyPhen-2 1.00
- ClinVar: Pathogenic/Likely pathogenic (not provided; Carnitine deficiency; not specified)
- EBI: Pathogenic (in CDSP)
- UniProt: Pathogenic (in CDSP)
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available
- Cited in: Diagnoses of newborns and mothers with carnitine uptake defects through newborn screening. (PMID 20074989)
- Cited in: Molecular spectrum of SLC22A5 (OCTN2) gene mutations detected in 143 subjects evaluated for systemic carnitine… (PMID 20574985)