P46L (p.Pro46Leu) variant of SLC22A5 (O76082)
P46L (p.Pro46Leu) 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 0.82 / 1. The record also includes population frequency data, published literature, and structural context.
P46L (p.Pro46Leu) variant details
- p.Pro46Leu
- rs377767445
- ClinGen CA342618
- ClinVar RCV000022304
- ClinVar RCV000595593
- Pathogenic
- in CDSP
- Missense
- Variant Prioritization Score for Impact Estimate 0.82
- REVEL 0.87
- CADD 27.80
- PolyPhen-2 0.94
- SIFT 0.00
- EBI: Pathogenic (in CDSP)
- UniProt: Pathogenic (in CDSP)
- Most common in the East Asian population (allele frequency 7.6e-05)
- Structural context available
- Cited in: Functional and molecular studies in primary carnitine deficiency. (PMID 28841266)
- Cited in: Primary Carnitine Deficiency. (PMID 22420015)