F129L (p.Phe129Leu) variant of PCDH19 (Protocadherin-19)
F129L (p.Phe129Leu) 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 0.51 / 1. The record also includes structural context.
F129L (p.Phe129Leu) variant details
- p.Phe129Leu
- rs1238011122
- ClinGen CA414010077
- ClinVar RCV000584834
- TOPMed rs1238011122
- Uncertain significance
- Developmental and epileptic encephalopathy, 9
- Missense
- Variant Prioritization Score for Impact Estimate 0.512
- AlphaMissense 1.00
- MetaLR 0.28
- MetaSVM -0.47
- PolyPhen-2 0.98
- SIFT 0.00
- EVE 0.78
- ClinVar: Uncertain significance (Developmental and epileptic encephalopathy, 9)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available