N66S (p.Asn66Ser) variant of ADNP (Q9H2P0)
N66S (p.Asn66Ser) in ADNP (Q9H2P0) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data and structural context.
N66S (p.Asn66Ser) variant details
- p.Asn66Ser
- rs1255162432
- ClinGen CA408981397
- ClinVar RCV001817461
- TOPMed rs1255162432
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.476
- CADD 18.30
- PolyPhen-2 0.02
- SIFT 0.75
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available