L37V (p.Leu37Val) variant of SLC22A5 (O76082)
L37V (p.Leu37Val) 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 0.40 / 1. The record also includes published literature and structural context.
L37V (p.Leu37Val) variant details
- p.Leu37Val
- rs796052037
- ClinGen CA312964
- ClinVar RCV001068817
- gnomAD rs796052037
- Uncertain significance
- Renal carnitine transport defect
- Missense
- Variant Prioritization Score for Impact Estimate 0.404
- AlphaMissense 0.20
- MetaLR 0.48
- MetaSVM -0.74
- PolyPhen-2 0.00
- SIFT 0.93
- EVE 0.09
- 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)