I17I (p.Ile17Ile) variant of C2CD2L (O14523)
I17I (p.Ile17Ile) in C2CD2L (O14523) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data, published literature, and structural context.
I17I (p.Ile17Ile) variant details
- p.Ile17Ile
- rs748573779
- gnomAD 11-119107792-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.657
- CADD 13.60
- Most common in the African/African-American population (allele frequency 3.5e-05)
- Structural context available
- Literature evidence available