I45N (p.Ile45Asn) variant of CAV3 (Caveolin-3)
I45N (p.Ile45Asn) in CAV3 (Caveolin-3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Elevated circulating creatine kinase activity. The available variant effect predictions contribute to a CATVariant prioritization score of 0.94 / 1. The record also includes structural context.
I45N (p.Ile45Asn) variant details
- p.Ile45Asn
- rs1553614409
- ClinGen CA351663152
- ClinVar RCV000594467
- ClinVar RCV002465735
- Uncertain significance
- not provided; Elevated circulating creatine kinase activity
- Missense
- Variant Prioritization Score for Impact Estimate 0.94
- ESM-1b 1.00
- AlphaMissense 0.99
- MetaLR 0.92
- MetaSVM 1.06
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (not provided; Elevated circulating creatine kinase activity)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available