A654P (p.Ala654Pro) variant of PCDH19 (Protocadherin-19)
A654P (p.Ala654Pro) 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 0.57 / 1. The record also includes published literature and structural context.
A654P (p.Ala654Pro) variant details
- p.Ala654Pro
- rs1928356260
- ClinGen CA414001591
- ClinVar RCV001199425
- Ensembl rs1928356260
- Likely pathogenic
- Glycine encephalopathy; Developmental and epileptic encephalopathy, 9
- Missense
- Variant Prioritization Score for Impact Estimate 0.569
- AlphaMissense 1.00
- MetaLR 0.44
- MetaSVM 0.12
- PolyPhen-2 1.00
- SIFT 0.01
- EVE 0.68
- ClinVar: Likely pathogenic (Glycine encephalopathy; Developmental and epileptic encephalopat)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Nonketotic Hyperglycinemia. (PMID 20301531)