V96I (p.Val96Ile) variant of ADNP (Q9H2P0)
V96I (p.Val96Ile) in ADNP (Q9H2P0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
V96I (p.Val96Ile) variant details
- p.Val96Ile
- rs1365256794
- gnomAD 20-50889915-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.277
- CADD 7.58
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Literature evidence available