L15M (p.Leu15Met) variant of PCDH19 (Protocadherin-19)
L15M (p.Leu15Met) 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 0.25 / 1. The record also includes population frequency data and structural context.
L15M (p.Leu15Met) variant details
- p.Leu15Met
- rs1928483733
- ClinGen CA414011502
- ClinVar RCV002653307
- Uncertain significance
- Developmental and epileptic encephalopathy, 9
- Missense
- Variant Prioritization Score for Impact Estimate 0.251
- REVEL 0.11
- CADD 15.40
- PolyPhen-2 0.20
- SIFT 0.01
- ClinVar: Uncertain significance (Developmental and epileptic encephalopathy, 9)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available