L63L (p.Leu63Leu) variant of ADNP (Q9H2P0)
L63L (p.Leu63Leu) in ADNP (Q9H2P0) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
L63L (p.Leu63Leu) variant details
- p.Leu63Leu
- gnomAD 20-50889931-A-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.254
- CADD 5.17
- Most common in the South Asian population (allele frequency 0.00033)
- Structural context available
- Literature evidence available