G233D (p.Gly233Asp) variant of CACNA1D (Q01668)
G233D (p.Gly233Asp) in CACNA1D (Q01668) is a missense change. Clinical records from ClinVar and UniProt describe it as likely pathogenic in the context of Sinoatrial node dysfunction and deafness; Aldosterone-producing adenoma with sei. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes population frequency data and structural context.
G233D (p.Gly233Asp) variant details
- p.Gly233Asp
- ExAC rs777253945
- gnomAD rs777253945
- Likely pathogenic
- Sinoatrial node dysfunction and deafness; Aldosterone-producing adenoma with sei
- Missense
- Variant Prioritization Score for Impact Estimate 0.905
- REVEL 0.97
- MetaLR 0.95
- MetaSVM 1.10
- CADD 28.30
- PolyPhen-2 0.44
- SIFT 0.00
- ClinVar: Likely pathogenic (Sinoatrial node dysfunction and deafness; Aldosterone-producing)
- UniProt: Likely pathogenic
- Population evidence available
- Structural context available