D124Y (p.Asp124Tyr) variant of PCDH19 (Protocadherin-19)
D124Y (p.Asp124Tyr) in PCDH19 (Protocadherin-19) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes structural context.
D124Y (p.Asp124Tyr) variant details
- p.Asp124Tyr
- rs796052797
- ClinGen CA316290
- cosmic curated COSV55263
- ClinVar RCV000188347
- Likely pathogenic
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.691
- AlphaMissense 1.00
- MetaLR 0.53
- MetaSVM 0.41
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.93
- ClinVar: Likely pathogenic (not provided)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available