I750F (p.Ile750Phe) variant of CACNA1D (Q01668)
I750F (p.Ile750Phe) in CACNA1D (Q01668) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Sinoatrial node dysfunction and deafness. The available variant effect predictions contribute to a CATVariant prioritization score of 0.92 / 1. The record also includes structural context.
I750F (p.Ile750Phe) variant details
- p.Ile750Phe
- rs1576484361
- ClinGen CA353240433
- cosmic curated COSV55457
- ClinVar RCV000987279
- Likely pathogenic
- Sinoatrial node dysfunction and deafness
- Missense
- Variant Prioritization Score for Impact Estimate 0.921
- AlphaMissense 0.99
- MetaLR 0.97
- MetaSVM 1.09
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.81
- ClinVar: Likely pathogenic (Sinoatrial node dysfunction and deafness)
- EBI: Likely pathogenic (in PASNA)
- UniProt: Likely pathogenic (in PASNA)
- Structural context available