D9T (p.Asp9Thr) variant of C2CD2L (O14523)
D9T (p.Asp9Thr) in C2CD2L (O14523) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
D9T (p.Asp9Thr) variant details
- p.Asp9Thr
- gnomAD 11-119107763-CG-C
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.395
- CADD 12.60
- Population evidence available
- Structural context available
- Literature evidence available