D121H (p.Asp121His) variant of PCDH19 (Protocadherin-19)
D121H (p.Asp121His) 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 0.86 / 1. The record also includes structural context.
D121H (p.Asp121His) variant details
- p.Asp121His
- rs796052795
- ClinGen CA316284
- ClinVar RCV000188345
- Ensembl rs796052795
- Likely pathogenic
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.856
- AlphaMissense 1.00
- MetaLR 0.77
- MetaSVM 0.85
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.92
- ClinVar: Likely pathogenic (not provided)
- EBI: Likely pathogenic (in DEE9)
- UniProt: Likely pathogenic (in DEE9)
- Structural context available