I119F (p.Ile119Phe) variant of PCDH19 (Protocadherin-19)
I119F (p.Ile119Phe) in PCDH19 (Protocadherin-19) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data and structural context.
I119F (p.Ile119Phe) variant details
- p.Ile119Phe
- gnomAD rs1928464114
- Missense
- Variant Prioritization Score for Impact Estimate 0.568
- REVEL 0.57
- CADD 24.90
- Most common in the Latino/Admixed American population (allele frequency 9.4e-05)
- Structural context available