T17M (p.Thr17Met) variant of PCDH19 (Protocadherin-19)
T17M (p.Thr17Met) 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 0.38 / 1. The record also includes population frequency data and structural context.
T17M (p.Thr17Met) variant details
- p.Thr17Met
- rs1928483128
- ClinGen CA414011484
- cosmic curated COSV55258
- ClinVar RCV003134766
- Uncertain significance
- Developmental and epileptic encephalopathy, 9
- Missense
- Variant Prioritization Score for Impact Estimate 0.38
- REVEL 0.16
- CADD 22.60
- PolyPhen-2 0.55
- SIFT 0.42
- ClinVar: Uncertain significance (Developmental and epileptic encephalopathy, 9)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available