P80S (p.Pro80Ser) variant of ADNP (Q9H2P0)
P80S (p.Pro80Ser) in ADNP (Q9H2P0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
P80S (p.Pro80Ser) variant details
- p.Pro80Ser
- rs1312314309
- gnomAD 20-50889897-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.32
- CADD 4.73
- Population evidence available
- Structural context available
- Literature evidence available