A40A (p.Ala40Ala) variant of C2CD2L (O14523)
A40A (p.Ala40Ala) in C2CD2L (O14523) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
A40A (p.Ala40Ala) variant details
- p.Ala40Ala
- gnomAD 11-119107861-G-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.305
- CADD 13.40
- Most common in the Finnish in Finland (FIN) population (allele frequency 2.6e-05)
- Structural context available
- Literature evidence available