N32D (p.Asn32Asp) variant of SLC22A5 (O76082)
N32D (p.Asn32Asp) 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 0.73 / 1. The record also includes published literature and structural context.
N32D (p.Asn32Asp) variant details
- p.Asn32Asp
- rs727504158
- ClinGen CA360802370
- ClinVar RCV002026651
- Ensembl rs727504158
- Likely pathogenic
- Renal carnitine transport defect
- Missense
- Variant Prioritization Score for Impact Estimate 0.729
- AlphaMissense 0.73
- MetaLR 0.70
- MetaSVM 0.46
- PolyPhen-2 1.00
- SIFT 0.02
- EVE 0.67
- ClinVar: Likely pathogenic (Renal carnitine transport defect)
- EBI: Likely pathogenic (in CDSP)
- UniProt: Likely pathogenic (in CDSP)
- Structural context available
- Cited in: Primary Carnitine Deficiency. (PMID 22420015)