T146M (p.Thr146Met) variant of PCDH19 (Protocadherin-19)
T146M (p.Thr146Met) in PCDH19 (Protocadherin-19) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Developmental and epileptic encephalopathy, 9. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data and structural context.
T146M (p.Thr146Met) variant details
- p.Thr146Met
- rs796052799
- ClinGen CA414009702
- ClinVar RCV003828537
- NCI-TCGA Cosmic COSV5526
- Likely pathogenic
- Developmental and epileptic encephalopathy, 9
- Missense
- Variant Prioritization Score for Impact Estimate 0.621
- REVEL 0.61
- AlphaMissense 0.74
- MetaLR 0.40
- MetaSVM -0.16
- CADD 26.40
- PolyPhen-2 1.00
- ClinVar: Likely pathogenic (Developmental and epileptic encephalopathy, 9)
- EBI: Likely pathogenic (in DEE9)
- UniProt: Likely pathogenic (in DEE9)
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Structural context available