L260R (p.Leu260Arg) variant of PCDH19 (Protocadherin-19)
L260R (p.Leu260Arg) 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 0.68 / 1. The record also includes published literature and structural context.
L260R (p.Leu260Arg) variant details
- p.Leu260Arg
- rs1928431321
- ClinGen CA414008170
- ClinVar RCV001199419
- Ensembl rs1928431321
- Likely pathogenic
- Glycine encephalopathy; Developmental and epileptic encephalopathy, 9
- Missense
- Variant Prioritization Score for Impact Estimate 0.68
- AlphaMissense 0.99
- MetaLR 0.53
- MetaSVM 0.41
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.83
- ClinVar: Likely pathogenic (Glycine encephalopathy; Developmental and epileptic encephalopat)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Nonketotic Hyperglycinemia. (PMID 20301531)