R47L (p.Arg47Leu) variant of PCDH19 (Protocadherin-19)
R47L (p.Arg47Leu) 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 0.21 / 1. The record also includes population frequency data and structural context.
R47L (p.Arg47Leu) variant details
- p.Arg47Leu
- rs2520998053
- ClinGen CA414011289
- ClinVar RCV003037537
- Uncertain significance
- Developmental and epileptic encephalopathy, 9
- Missense
- Variant Prioritization Score for Impact Estimate 0.206
- REVEL 0.05
- CADD 18.50
- PolyPhen-2 0.02
- SIFT 0.15
- ClinVar: Uncertain significance (Developmental and epileptic encephalopathy, 9)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available