A9V (p.Ala9Val) variant of SLC22A5 (O76082)
A9V (p.Ala9Val) 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 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
A9V (p.Ala9Val) variant details
- p.Ala9Val
- rs753998904
- ClinGen CA3403768
- ClinVar RCV000812286
- ClinVar RCV002226496
- Uncertain significance
- Renal carnitine transport defect
- Missense
- Variant Prioritization Score for Impact Estimate 0.43
- REVEL 0.34
- AlphaMissense 0.18
- MetaLR 0.48
- MetaSVM -0.22
- CADD 23.30
- PolyPhen-2 0.09
- ClinVar: Uncertain significance (Renal carnitine transport defect)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Cited in: Primary Carnitine Deficiency. (PMID 22420015)