G36A (p.Gly36Ala) variant of C2CD2L (O14523)
G36A (p.Gly36Ala) in C2CD2L (O14523) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data, published literature, and structural context.
G36A (p.Gly36Ala) variant details
- p.Gly36Ala
- gnomAD 11-119107844-CG-C
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.677
- CADD 28.50
- Population evidence available
- Structural context available
- Literature evidence available