D88E (p.Asp88Glu) variant of PCDH15 (Protocadherin-15)
D88E (p.Asp88Glu) 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.
D88E (p.Asp88Glu) variant details
- p.Asp88Glu
- rs2135024168
- ClinGen CA376540517
- ClinVar RCV001887855
- Ensembl rs2135024168
- Uncertain significance
- not provided
- Missense
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance