D68E (p.Asp68Glu) variant of ADNP (Q9H2P0)
D68E (p.Asp68Glu) in ADNP (Q9H2P0) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
D68E (p.Asp68Glu) variant details
- p.Asp68Glu
- rs2515593090
- ClinGen CA408979946
- ClinVar RCV002462419
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.405
- CADD 22.70
- PolyPhen-2 0.98
- SIFT 0.52
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.00018)
- Structural context available