V57M (p.Val57Met) variant of PCDH15 (Protocadherin-15)
V57M (p.Val57Met) 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 specified.
V57M (p.Val57Met) variant details
- p.Val57Met
- rs1589122156
- ClinGen CA376540727
- ClinVar RCV000826012
- Ensembl rs1589122156
- Uncertain significance
- not specified
- Missense
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance