A44T (p.Ala44Thr) variant of SLC22A5 (O76082)
A44T (p.Ala44Thr) 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 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
A44T (p.Ala44Thr) variant details
- p.Ala44Thr
- rs1266620798
- ClinGen CA360802438
- ClinVar RCV001239546
- ClinVar RCV002226522
- Uncertain significance
- Renal carnitine transport defect
- Missense
- Variant Prioritization Score for Impact Estimate 0.446
- REVEL 0.43
- CADD 22.10
- PolyPhen-2 0.13
- SIFT 0.15
- ClinVar: Uncertain significance (Renal carnitine transport defect)
- EBI: Variant of uncertain significance (in CDSP)
- UniProt: Uncertain significance (in CDSP)
- Most common in the African/African-American population (allele frequency 9.6e-05)
- Structural context available
- Cited in: Primary Carnitine Deficiency. (PMID 22420015)