I17I (p.Ile17Ile) variant of CAV3 (Caveolin-3)
I17I (p.Ile17Ile) in CAV3 (Caveolin-3) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data, published literature, and structural context.
I17I (p.Ile17Ile) variant details
- p.Ile17Ile
- rs1553613132
- gnomAD 3-8733927-C-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.122
- CADD 5.79
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Literature evidence available