A9G (p.Ala9Gly) variant of SLC22A5 (O76082)
A9G (p.Ala9Gly) 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 0.46 / 1. The record also includes published literature and structural context.
A9G (p.Ala9Gly) variant details
- p.Ala9Gly
- rs753998904
- ClinGen CA360802230
- ClinVar RCV003507026
- Uncertain significance
- Renal carnitine transport defect
- Missense
- Variant Prioritization Score for Impact Estimate 0.459
- AlphaMissense 0.18
- MetaLR 0.48
- MetaSVM -0.22
- PolyPhen-2 0.09
- SIFT 0.01
- EVE 0.44
- ClinVar: Uncertain significance (Renal carnitine transport defect)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Primary Carnitine Deficiency. (PMID 22420015)