I26M (p.Ile26Met) variant of ADNP (Q9H2P0)
I26M (p.Ile26Met) in ADNP (Q9H2P0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data, experimental measurements, and structural context.
I26M (p.Ile26Met) variant details
- p.Ile26Met
- ExAC rs780378714
- gnomAD rs780378714
- Missense
- Variant Prioritization Score for Impact Estimate 0.631
- CADD 25.30
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the Finnish in Finland (FIN) population (allele frequency 1.9e-05)
- Structural context available
- ADNP Homeobox domain domainome 1.0: score -0.151