I105V (p.Ile105Val) variant of ADNP (Q9H2P0)
I105V (p.Ile105Val) in ADNP (Q9H2P0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data, published literature, and structural context.
I105V (p.Ile105Val) variant details
- p.Ile105Val
- rs1980474881
- gnomAD 20-50889867-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.121
- CADD 5.68
- Population evidence available
- Structural context available
- Literature evidence available