L15C (p.Leu15Cys) variant of C2CD2L (O14523)
L15C (p.Leu15Cys) in C2CD2L (O14523) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data, published literature, and structural context.
L15C (p.Leu15Cys) variant details
- p.Leu15Cys
- gnomAD 11-119107783-CT-C
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.552
- CADD 22.50
- Population evidence available
- Structural context available
- Literature evidence available