R56Q (p.Arg56Gln) variant of PCDH19 (Protocadherin-19)
R56Q (p.Arg56Gln) in PCDH19 (Protocadherin-19) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Developmental and epileptic encephalopathy, 9. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
R56Q (p.Arg56Gln) variant details
- p.Arg56Gln
- rs1928475827
- ClinGen CA414011236
- ClinVar RCV001982385
- TOPMed rs1928475827
- Uncertain significance
- Developmental and epileptic encephalopathy, 9
- Missense
- Variant Prioritization Score for Impact Estimate 0.27
- REVEL 0.06
- CADD 19.50
- PolyPhen-2 0.07
- SIFT 0.45
- ClinVar: Uncertain significance (Developmental and epileptic encephalopathy, 9)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available