N32H (p.Asn32His) variant of SLC22A5 (O76082)
N32H (p.Asn32His) in SLC22A5 (O76082) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; 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.
N32H (p.Asn32His) variant details
- p.Asn32His
- rs727504158
- ClinGen CA234948
- ClinVar RCV000153958
- ClinVar RCV005055629
- Conflicting interpretations
- not provided; 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: Conflicting classifications of pathogenicity (not provided; Renal carnitine transport defect)
- EBI: Likely pathogenic (in CDSP)
- UniProt: Likely pathogenic (in CDSP)
- Structural context available
- Cited in: Primary Carnitine Deficiency. (PMID 22420015)