P73A (p.Pro73Ala) variant of ADNP (Q9H2P0)
P73A (p.Pro73Ala) in ADNP (Q9H2P0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data and structural context.
P73A (p.Pro73Ala) variant details
- p.Pro73Ala
- gnomAD rs1219215759
- Missense
- Variant Prioritization Score for Impact Estimate 0.743
- CADD 23.40
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available