H92H (p.His92His) variant of ADNP (Q9H2P0)
H92H (p.His92His) in ADNP (Q9H2P0) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data, published literature, and structural context.
H92H (p.His92His) variant details
- p.His92His
- rs997849120
- gnomAD 20-50889934-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.567
- CADD 1.66
- Most common in the Non-Finnish European population (allele frequency 6.3e-06)
- Structural context available
- Literature evidence available