L94F (p.Leu94Phe) variant of PCDH15 (Protocadherin-15)
L94F (p.Leu94Phe) 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.
L94F (p.Leu94Phe) variant details
- p.Leu94Phe
- rs554296133
- ClinGen CA376540479
- ClinVar RCV003887115
- Uncertain significance
- not provided
- Missense
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance