A14G (p.Ala14Gly) variant of C2CD2L (O14523)
A14G (p.Ala14Gly) in C2CD2L (O14523) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data, published literature, and structural context.
A14G (p.Ala14Gly) variant details
- p.Ala14Gly
- gnomAD 11-119107777-GGCG
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.769
- CADD 29.00
- Population evidence available
- Structural context available
- Literature evidence available