G36R (p.Gly36Arg) variant of PCDH19 (Protocadherin-19)
G36R (p.Gly36Arg) in PCDH19 (Protocadherin-19) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Developmental and epileptic encephalopathy, 9; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data and structural context.
G36R (p.Gly36Arg) variant details
- p.Gly36Arg
- rs1928479255
- ClinGen CA414011362
- ClinVar RCV003076900
- ClinVar RCV003229931
- Uncertain significance
- Developmental and epileptic encephalopathy, 9; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.661
- REVEL 0.62
- CADD 26.20
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Developmental and epileptic encephalopathy, 9; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Structural context available