P127L (p.Pro127Leu) variant of PCDH19 (Protocadherin-19)
P127L (p.Pro127Leu) 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 0.81 / 1. The record also includes structural context.
P127L (p.Pro127Leu) variant details
- p.Pro127Leu
- rs2147542030
- ClinGen CA414010191
- ClinVar RCV001985960
- Ensembl rs2147542030
- Uncertain significance
- Developmental and epileptic encephalopathy, 9
- Missense
- Variant Prioritization Score for Impact Estimate 0.814
- AlphaMissense 0.99
- MetaLR 0.71
- MetaSVM 0.73
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.93
- ClinVar: Uncertain significance (Developmental and epileptic encephalopathy, 9)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available