S22* (p.Ser22Ter) variant of C2CD2L (O14523)
S22* (p.Ser22Ter) in C2CD2L (O14523) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data, published literature, and structural context.
S22* (p.Ser22Ter) variant details
- p.Ser22Ter
- gnomAD 11-119107806-C-A
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.834
- CADD 36.00
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available
- Literature evidence available