R56G (p.Arg56Gly) variant of PCDH19 (Protocadherin-19)
R56G (p.Arg56Gly) in PCDH19 (Protocadherin-19) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Developmental and epileptic encephalopathy, 9. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
R56G (p.Arg56Gly) variant details
- p.Arg56Gly
- rs940541141
- ClinGen CA333826109
- ClinVar RCV003621927
- ClinVar RCV004721210
- Uncertain significance
- not provided; Developmental and epileptic encephalopathy, 9
- Missense
- Variant Prioritization Score for Impact Estimate 0.228
- REVEL 0.17
- CADD 21.10
- PolyPhen-2 0.73
- SIFT 0.25
- ClinVar: Uncertain significance (not provided; Developmental and epileptic encephalopathy, 9)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 4.8e-06)
- Structural context available