I105K (p.Ile105Lys) variant of ADNP (Q9H2P0)
I105K (p.Ile105Lys) in ADNP (Q9H2P0) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data, published literature, and structural context.
I105K (p.Ile105Lys) variant details
- p.Ile105Lys
- rs1268949125
- gnomAD 20-50889864-TAA-T
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.147
- CADD 7.89
- Population evidence available
- Structural context available
- Literature evidence available