I750M (p.Ile750Met) variant of CACNA1D (Q01668)
I750M (p.Ile750Met) in CACNA1D (Q01668) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Aldosterone-producing adenoma with seizures and neurological abnormalities; not. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes population frequency data, published literature, and structural context.
I750M (p.Ile750Met) variant details
- p.Ile750Met
- rs41276445
- ClinGen CA144866
- cosmic curated COSV55445
- ClinVar RCV000056308
- Pathogenic/Likely pathogenic
- Aldosterone-producing adenoma with seizures and neurological abnormalities; not
- Missense
- Variant Prioritization Score for Impact Estimate 0.912
- AlphaMissense 0.94
- MetaLR 0.96
- MetaSVM 1.08
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.80
- ClinVar: Pathogenic/Likely pathogenic (Aldosterone-producing adenoma with seizures and neurological abn)
- EBI: Pathogenic (in PASNA)
- UniProt: Pathogenic (in PASNA)
- Population evidence available
- Structural context available
- Cited in: Somatic and germline CACNA1D calcium channel mutations in aldosterone-producing adenomas and primary aldosteronism. (PMID 23913001)