V40M (p.Val40Met) variant of SLC22A5 (O76082)
V40M (p.Val40Met) 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 0.55 / 1. The record also includes population frequency data, published literature, and structural context.
V40M (p.Val40Met) variant details
- p.Val40Met
- rs148657753
- ClinGen CA3403791
- ClinVar RCV001157362
- ESP rs148657753
- Uncertain significance
- Renal carnitine transport defect
- Missense
- Variant Prioritization Score for Impact Estimate 0.553
- REVEL 0.57
- CADD 27.30
- PolyPhen-2 0.78
- SIFT 0.02
- ClinVar: Uncertain significance (Renal carnitine transport defect)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Cited in: Primary Carnitine Deficiency. (PMID 22420015)