I45I (p.Ile45Ile) variant of CAV3 (Caveolin-3)
I45I (p.Ile45Ile) in CAV3 (Caveolin-3) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data, published literature, and structural context.
I45I (p.Ile45Ile) variant details
- p.Ile45Ile
- rs115593543
- gnomAD 3-8745546-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.0814
- CADD 0.11
- Most common in the 1KG:CEU population (allele frequency 0.0042)
- Structural context available
- Literature evidence available