T35A (p.Thr35Ala) variant of SLC22A5 (O76082)
T35A (p.Thr35Ala) in SLC22A5 (O76082) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Renal carnitine transport defect. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
T35A (p.Thr35Ala) variant details
- p.Thr35Ala
- rs776965130
- ClinGen CA3403781
- ClinVar RCV002286670
- ExAC rs776965130
- Likely benign
- Renal carnitine transport defect
- Missense
- Variant Prioritization Score for Impact Estimate 0.416
- REVEL 0.31
- CADD 22.40
- PolyPhen-2 0.02
- SIFT 0.55
- ClinVar: Likely benign (Renal carnitine transport defect)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the South Asian population (allele frequency 3.5e-05)
- Structural context available
- Cited in: Primary Carnitine Deficiency. (PMID 22420015)