N8D (p.Asn8Asp) variant of ADNP (Q9H2P0)
N8D (p.Asn8Asp) in ADNP (Q9H2P0) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data, experimental measurements, and structural context.
N8D (p.Asn8Asp) variant details
- p.Asn8Asp
- NCI-TCGA TCGA novel
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.648
- CADD 27.10
- PolyPhen-2 0.98
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- ADNP Homeobox domain domainome 1.0: score -0.554