A55T (p.Ala55Thr) variant of SLC22A5 (O76082)
A55T (p.Ala55Thr) 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 0.09 / 1. The record also includes population frequency data, published literature, and structural context.
A55T (p.Ala55Thr) variant details
- p.Ala55Thr
- rs1356287812
- ClinGen CA360802500
- ClinVar RCV001043389
- gnomAD rs1356287812
- Uncertain significance
- Renal carnitine transport defect
- Missense
- Variant Prioritization Score for Impact Estimate 0.0851
- REVEL 0.08
- CADD 2.86
- PolyPhen-2 0.00
- SIFT 0.68
- ClinVar: Uncertain significance (Renal carnitine transport defect)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available
- Cited in: Primary Carnitine Deficiency. (PMID 22420015)