P478S (p.Pro478Ser) variant of SLC22A5 (O76082)
P478S (p.Pro478Ser) in SLC22A5 (O76082) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Renal carnitine transport defect. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data, published literature, and structural context.
P478S (p.Pro478Ser) variant details
- p.Pro478Ser
- rs2126791630
- ClinGen CA360809304
- cosmic curated COSV10455
- ClinVar RCV002021618
- Likely pathogenic
- Renal carnitine transport defect
- Missense
- Variant Prioritization Score for Impact Estimate 0.71
- REVEL 0.65
- CADD 26.20
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Renal carnitine transport defect)
- EBI: Likely pathogenic (in CDSP)
- UniProt: Likely pathogenic (in CDSP)
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: Primary Carnitine Deficiency. (PMID 22420015)