T146K (p.Thr146Lys) variant of PCDH19 (Protocadherin-19)
T146K (p.Thr146Lys) 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 0.52 / 1. The record also includes structural context.
T146K (p.Thr146Lys) variant details
- p.Thr146Lys
- rs796052799
- ClinGen CA414009704
- ClinVar RCV001211167
- Ensembl rs796052799
- Uncertain significance
- Developmental and epileptic encephalopathy, 9
- Missense
- Variant Prioritization Score for Impact Estimate 0.521
- AlphaMissense 0.74
- MetaLR 0.40
- MetaSVM -0.16
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.60
- ClinVar: Uncertain significance (Developmental and epileptic encephalopathy, 9)
- EBI: Likely pathogenic (in DEE9)
- UniProt: Likely pathogenic (in DEE9)
- Structural context available