A214V (p.Ala214Val) variant of SLC22A5 (O76082)
A214V (p.Ala214Val) in SLC22A5 (O76082) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Carnitine deficiency; not provided; Renal carnitine transport defect. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data, published literature, and structural context.
A214V (p.Ala214Val) variant details
- p.Ala214Val
- rs386134199
- ClinGen CA312942
- ClinVar RCV000022332
- ClinVar RCV000186137
- Conflicting interpretations
- Carnitine deficiency; not provided; Renal carnitine transport defect
- Missense
- Variant Prioritization Score for Impact Estimate 0.795
- REVEL 0.79
- CADD 28.20
- PolyPhen-2 0.89
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (Carnitine deficiency; not provided; Renal carnitine transport de)
- EBI: Likely pathogenic (in CDSP)
- UniProt: Likely pathogenic (in CDSP)
- Most common in the 1KG:BEB population (allele frequency 0.025)
- Structural context available
- Cited in: Maternal systemic primary carnitine deficiency uncovered by newborn screening: clinical, biochemical, and molecular… (PMID 20027113)
- Cited in: Molecular spectrum of SLC22A5 (OCTN2) gene mutations detected in 143 subjects evaluated for systemic carnitine… (PMID 20574985)