Q201P (p.Gln201Pro) variant of PCDH19 (Protocadherin-19)
Q201P (p.Gln201Pro) in PCDH19 (Protocadherin-19) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Glycine encephalopathy; Developmental and epileptic encephalopathy, 9. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes published literature and structural context.
Q201P (p.Gln201Pro) variant details
- p.Gln201Pro
- rs1928446616
- ClinGen CA414009096
- ClinVar RCV001199418
- TOPMed rs1928446616
- Likely pathogenic
- Glycine encephalopathy; Developmental and epileptic encephalopathy, 9
- Missense
- Variant Prioritization Score for Impact Estimate 0.58
- AlphaMissense 0.76
- MetaLR 0.45
- MetaSVM 0.09
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.75
- ClinVar: Likely pathogenic (Glycine encephalopathy; Developmental and epileptic encephalopat)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Nonketotic Hyperglycinemia. (PMID 20301531)