N66V (p.Asn66Val) variant of ADNP (Q9H2P0)
N66V (p.Asn66Val) in ADNP (Q9H2P0) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data, published literature, and structural context.
N66V (p.Asn66Val) variant details
- p.Asn66Val
- rs1980484052
- gnomAD 20-50889948-T-TTA
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.168
- CADD 1.35
- Most common in the Latino/Admixed American population (allele frequency 0.00013)
- Structural context available
- Literature evidence available