p.Leu37 Gly47del variant of C2CD2L (O14523)
p.Leu37 Gly47del in C2CD2L (O14523) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
p.Leu37 Gly47del variant details
- gnomAD 11-119107842-CCCG
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.507
- CADD 21.50
- Population evidence available
- Structural context available
- Literature evidence available