D60N (p.Asp60Asn) variant of ADNP (Q9H2P0)
D60N (p.Asp60Asn) in ADNP (Q9H2P0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data and structural context.
D60N (p.Asp60Asn) variant details
- p.Asp60Asn
- cosmic curated COSV10082
- TOPMed rs1488367897
- gnomAD rs1488367897
- Missense
- Variant Prioritization Score for Impact Estimate 0.783
- CADD 26.00
- PolyPhen-2 0.83
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available