I100F (p.Ile100Phe) variant of PCDH19 (Protocadherin-19)
I100F (p.Ile100Phe) in PCDH19 (Protocadherin-19) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Developmental and epileptic encephalopathy, 9. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
I100F (p.Ile100Phe) variant details
- p.Ile100Phe
- rs796052838
- ClinGen CA316415
- ClinVar RCV000188400
- ClinVar RCV001857630
- Uncertain significance
- not provided; Developmental and epileptic encephalopathy, 9
- Missense
- Variant Prioritization Score for Impact Estimate 0.244
- REVEL 0.11
- CADD 21.30
- PolyPhen-2 0.01
- SIFT 0.14
- ClinVar: Uncertain significance (not provided; Developmental and epileptic encephalopathy, 9)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 3.3e-05)
- Structural context available