p.Gly100 Leu103delinsVal variant of ADNP (Q9H2P0)
p.Gly100 Leu103delinsVal in ADNP (Q9H2P0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data, published literature, and structural context.
p.Gly100 Leu103delinsVal variant details
- gnomAD 20-50889851-AAAGC
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.669
- CADD 13.20
- Most common in the Non-Finnish European population (allele frequency 6.3e-06)
- Structural context available
- Literature evidence available