Q7S (p.Gln7Ser) variant of C2CD2L (O14523)
Q7S (p.Gln7Ser) in C2CD2L (O14523) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
Q7S (p.Gln7Ser) variant details
- p.Gln7Ser
- gnomAD 11-119107754-TG-T
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.47
- CADD 25.90
- Most common in the Ashkenazi Jewish population (allele frequency 4.1e-05)
- Structural context available
- Literature evidence available