P97L (p.Pro97Leu) variant of PCDH19 (Protocadherin-19)
P97L (p.Pro97Leu) 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 0.45 / 1. The record also includes population frequency data and structural context.
P97L (p.Pro97Leu) variant details
- p.Pro97Leu
- rs2520996278
- ClinGen CA414010833
- ClinVar RCV003623681
- Uncertain significance
- Developmental and epileptic encephalopathy, 9
- Missense
- Variant Prioritization Score for Impact Estimate 0.448
- REVEL 0.33
- CADD 24.30
- PolyPhen-2 1.00
- SIFT 0.20
- ClinVar: Uncertain significance (Developmental and epileptic encephalopathy, 9)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.4e-06)
- Structural context available