M1I (p.Met1Ile) variant of PCDH19 (Protocadherin-19)
M1I (p.Met1Ile) in PCDH19 (Protocadherin-19) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Developmental and epileptic encephalopathy, 9. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes structural context.
M1I (p.Met1Ile) variant details
- p.Met1Ile
- rs2147543046
- ClinGen CA414011578
- ClinVar RCV001379045
- Pathogenic
- Developmental and epileptic encephalopathy, 9
- Missense
- Variant Prioritization Score for Impact Estimate 0.295
- MetaLR 0.10
- MetaSVM -1.05
- PolyPhen-2 0.21
- SIFT 0.00
- MutPred 0.83
- ClinVar: Pathogenic (Developmental and epileptic encephalopathy, 9)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available