L37F (p.Leu37Phe) variant of CASR (P41180)
L37F (p.Leu37Phe) in CASR (P41180) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Nephrolithiasis/nephrocalcinosis; not specified. The record also includes structural context.
L37F (p.Leu37Phe) variant details
- p.Leu37Phe
- rs2473205478
- ClinGen CA354362147
- ClinVar RCV004525558
- ClinVar RCV006454534
- Uncertain significance
- Nephrolithiasis/nephrocalcinosis; not specified
- Missense
- ClinVar: Uncertain significance (Nephrolithiasis/nephrocalcinosis; not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available