D558H (p.Asp558His) variant of PCDH19 (Protocadherin-19)
D558H (p.Asp558His) 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 0.84 / 1. The record also includes population frequency data, published literature, and structural context.
D558H (p.Asp558His) variant details
- p.Asp558His
- rs748611349
- ClinGen CA333826066
- ClinVar RCV001199426
- ExAC rs748611349
- Likely pathogenic
- Glycine encephalopathy; Developmental and epileptic encephalopathy, 9
- Missense
- Variant Prioritization Score for Impact Estimate 0.837
- REVEL 0.92
- MetaLR 0.80
- MetaSVM 0.92
- CADD 26.30
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Glycine encephalopathy; Developmental and epileptic encephalopat)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Structural context available
- Cited in: Nonketotic Hyperglycinemia. (PMID 20301531)