V96S (p.Val96Ser) variant of ADNP (Q9H2P0)
V96S (p.Val96Ser) in ADNP (Q9H2P0) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data, published literature, and structural context.
V96S (p.Val96Ser) variant details
- p.Val96Ser
- gnomAD 20-50889913-TAC-T
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.132
- CADD 7.30
- Most common in the African/African-American population (allele frequency 0.00014)
- Structural context available
- Literature evidence available