S107F (p.Ser107Phe) variant of PCDH19 (Protocadherin-19)
S107F (p.Ser107Phe) in PCDH19 (Protocadherin-19) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
S107F (p.Ser107Phe) variant details
- p.Ser107Phe
- TOPMed rs1285810900
- Missense
- Variant Prioritization Score for Impact Estimate 0.464
- REVEL 0.26
- CADD 27.10
- Most common in the Non-Finnish European population (allele frequency 1.9e-05)
- Structural context available