S50N (p.Ser50Asn) variant of PCDH15 (Protocadherin-15)
S50N (p.Ser50Asn) in PCDH15 (Protocadherin-15) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data.
S50N (p.Ser50Asn) variant details
- p.Ser50Asn
- TOPMed rs1555032911
- gnomAD rs1555032911
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.63
- MetaLR 0.30
- MetaSVM -0.36
- CADD 23.90
- PolyPhen-2 0.67
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)