p.Lys15 Asp16del variant of CAV3 (Caveolin-3)
p.Lys15 Asp16del in CAV3 (Caveolin-3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data, published literature, and structural context.
p.Lys15 Asp16del variant details
- gnomAD 3-8733918-CAAGGAT
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.524
- CADD 21.40
- Population evidence available
- Structural context available
- Literature evidence available