D121A (p.Asp121Ala) variant of PCDH19 (Protocadherin-19)
D121A (p.Asp121Ala) in PCDH19 (Protocadherin-19) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Developmental and epileptic encephalopathy, 9. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes structural context.
D121A (p.Asp121Ala) variant details
- p.Asp121Ala
- rs1928463633
- ClinGen CA414010327
- ClinVar RCV001233479
- Ensembl rs1928463633
- Pathogenic
- Developmental and epileptic encephalopathy, 9
- Missense
- Variant Prioritization Score for Impact Estimate 0.779
- AlphaMissense 1.00
- MetaLR 0.69
- MetaSVM 0.59
- PolyPhen-2 0.79
- SIFT 0.00
- EVE 0.92
- ClinVar: Pathogenic (Developmental and epileptic encephalopathy, 9)
- EBI: Pathogenic (in DEE9)
- UniProt: Pathogenic (in DEE9)
- Structural context available