D54N (p.Asp54Asn) variant of SLC22A5 (O76082)
D54N (p.Asp54Asn) in SLC22A5 (O76082) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Renal carnitine transport defect. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
D54N (p.Asp54Asn) variant details
- p.Asp54Asn
- rs745313662
- ClinGen CA127196344
- ClinVar RCV002731397
- TOPMed rs745313662
- Uncertain significance
- Renal carnitine transport defect
- Missense
- Variant Prioritization Score for Impact Estimate 0.304
- REVEL 0.15
- CADD 22.50
- PolyPhen-2 0.02
- SIFT 0.16
- ClinVar: Uncertain significance (Renal carnitine transport defect)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.3e-05)
- Structural context available
- Cited in: Primary Carnitine Deficiency. (PMID 22420015)