P455R (p.Pro455Arg) variant of SLC22A5 (O76082)
P455R (p.Pro455Arg) in SLC22A5 (O76082) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Carnitine deficiency; not provided; Renal carnitine transport defect. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data, published literature, and structural context.
P455R (p.Pro455Arg) variant details
- p.Pro455Arg
- rs1408166345
- ClinGen CA360808902
- ClinVar RCV000811626
- ClinVar RCV001570976
- Pathogenic/Likely pathogenic
- Carnitine deficiency; not provided; Renal carnitine transport defect
- Missense
- Variant Prioritization Score for Impact Estimate 0.829
- REVEL 0.86
- CADD 25.90
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Carnitine deficiency; not provided; Renal carnitine transport de)
- EBI: Pathogenic (in CDSP)
- UniProt: Pathogenic (in CDSP)
- Most common in the African/African-American population (allele frequency 2.4e-05)
- 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)