S50T (p.Ser50Thr) variant of PCDH15 (Protocadherin-15)
S50T (p.Ser50Thr) 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 0.62 / 1. The record also includes population frequency data.
S50T (p.Ser50Thr) variant details
- p.Ser50Thr
- TOPMed rs1555032911
- gnomAD rs1555032911
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.616
- MetaLR 0.30
- MetaSVM -0.48
- CADD 22.90
- PolyPhen-2 0.31
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)