D124A (p.Asp124Ala) variant of PCDH19 (Protocadherin-19)
D124A (p.Asp124Ala) in PCDH19 (Protocadherin-19) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Developmental and epileptic encephalopathy, 9. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes structural context.
D124A (p.Asp124Ala) variant details
- p.Asp124Ala
- rs2147542056
- ClinGen CA414010270
- ClinVar RCV001378907
- Ensembl rs2147542056
- Likely pathogenic
- Developmental and epileptic encephalopathy, 9
- Missense
- Variant Prioritization Score for Impact Estimate 0.673
- AlphaMissense 1.00
- MetaLR 0.51
- MetaSVM 0.35
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.91
- ClinVar: Likely pathogenic (Developmental and epileptic encephalopathy, 9)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available