A14A (p.Ala14Ala) variant of C2CD2L (O14523)
A14A (p.Ala14Ala) in C2CD2L (O14523) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
A14A (p.Ala14Ala) variant details
- p.Ala14Ala
- rs1946625234
- gnomAD 11-119107783-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.482
- CADD 14.10
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Literature evidence available