S50I (p.Ser50Ile) variant of PCDH15 (Protocadherin-15)
S50I (p.Ser50Ile) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data.
S50I (p.Ser50Ile) variant details
- p.Ser50Ile
- rs1555032911
- ClinGen CA376541391
- ClinVar RCV000658085
- TOPMed rs1555032911
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.637
- MetaLR 0.30
- MetaSVM -0.45
- CADD 24.70
- PolyPhen-2 0.86
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 4.5e-05)