A44V (p.Ala44Val) variant of SLC22A5 (O76082)
A44V (p.Ala44Val) 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 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
A44V (p.Ala44Val) variant details
- p.Ala44Val
- rs199689597
- ClinGen CA3403792
- cosmic curated COSV10808
- ClinVar RCV000695244
- Conflicting interpretations
- Carnitine deficiency; not provided; Renal carnitine transport defect
- Missense
- Variant Prioritization Score for Impact Estimate 0.505
- REVEL 0.79
- CADD 7.43
- PolyPhen-2 0.27
- SIFT 0.12
- ClinVar: Conflicting classifications of pathogenicity (Carnitine deficiency; not provided; Renal carnitine transport de)
- EBI: Pathogenic (in CDSP)
- UniProt: Pathogenic (in CDSP)
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available
- Cited in: Functional and molecular studies in primary carnitine deficiency. (PMID 28841266)
- Cited in: Primary Carnitine Deficiency. (PMID 22420015)