P55R (p.Pro55Arg) variant of PCDH19 (Protocadherin-19)
P55R (p.Pro55Arg) 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 0.28 / 1. The record also includes structural context.
P55R (p.Pro55Arg) variant details
- p.Pro55Arg
- rs1928476240
- ClinGen CA414011239
- ClinVar RCV001229588
- Ensembl rs1928476240
- Uncertain significance
- Developmental and epileptic encephalopathy, 9
- Missense
- Variant Prioritization Score for Impact Estimate 0.281
- AlphaMissense 0.14
- MetaLR 0.06
- MetaSVM -1.10
- PolyPhen-2 0.06
- SIFT 0.20
- EVE 0.09
- ClinVar: Uncertain significance (Developmental and epileptic encephalopathy, 9)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available