P31L (p.Pro31Leu) variant of SLC22A5 (O76082)
P31L (p.Pro31Leu) in SLC22A5 (O76082) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Renal carnitine transport defect. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes published literature and structural context.
P31L (p.Pro31Leu) variant details
- p.Pro31Leu
- rs2126764868
- ClinGen CA360802369
- ClinVar RCV001949530
- Ensembl rs2126764868
- Pathogenic
- Renal carnitine transport defect
- Missense
- Variant Prioritization Score for Impact Estimate 0.612
- AlphaMissense 0.71
- MetaLR 0.61
- MetaSVM 0.05
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.63
- ClinVar: Pathogenic (Renal carnitine transport defect)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Primary Carnitine Deficiency. (PMID 22420015)