Q85R (p.Gln85Arg) variant of PCDH19 (Protocadherin-19)
Q85R (p.Gln85Arg) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes structural context.
Q85R (p.Gln85Arg) variant details
- p.Gln85Arg
- rs1928470713
- ClinGen CA414011014
- ClinVar RCV001227636
- Ensembl rs1928470713
- Uncertain significance
- Developmental and epileptic encephalopathy, 9
- Missense
- Variant Prioritization Score for Impact Estimate 0.363
- AlphaMissense 0.48
- MetaLR 0.10
- MetaSVM -1.04
- PolyPhen-2 0.89
- SIFT 0.02
- EVE 0.35
- ClinVar: Uncertain significance (Developmental and epileptic encephalopathy, 9)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available