P247R (p.Pro247Arg) variant of SLC22A5 (O76082)
P247R (p.Pro247Arg) in SLC22A5 (O76082) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Renal carnitine transport defect. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes published literature and structural context.
P247R (p.Pro247Arg) variant details
- p.Pro247Arg
- rs2126783802
- ClinGen CA360805116
- ClinVar RCV001956275
- UniProt VAR 079662
- Pathogenic/Likely pathogenic
- Renal carnitine transport defect
- Missense
- Variant Prioritization Score for Impact Estimate 0.79
- AlphaMissense 0.99
- MetaLR 0.72
- MetaSVM 0.61
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.86
- ClinVar: Pathogenic/Likely pathogenic (Renal carnitine transport defect)
- EBI: Pathogenic (in CDSP)
- UniProt: Pathogenic (in CDSP)
- Structural context available
- Cited in: Functional and molecular studies in primary carnitine deficiency. (PMID 28841266)
- Cited in: Primary Carnitine Deficiency. (PMID 22420015)