C24Y (p.Cys24Tyr) variant of PCDH15 (Protocadherin-15)
C24Y (p.Cys24Tyr) 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.
C24Y (p.Cys24Tyr) variant details
- p.Cys24Tyr
- rs2549545176
- ClinGen CA376541903
- ClinVar RCV002511221
- Uncertain significance
- not provided
- Missense
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance