L17M (p.Leu17Met) variant of PCDH15 (Protocadherin-15)
L17M (p.Leu17Met) in PCDH15 (Protocadherin-15) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided.
L17M (p.Leu17Met) variant details
- p.Leu17Met
- rs2094534620
- ClinGen CA376541949
- ClinVar RCV001351194
- Ensembl rs2094534620
- Uncertain significance
- not provided
- Missense
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance