T71N (p.Thr71Asn) variant of ADNP (Q9H2P0)
T71N (p.Thr71Asn) in ADNP (Q9H2P0) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data, published literature, and structural context.
T71N (p.Thr71Asn) variant details
- p.Thr71Asn
- rs1404701748
- gnomAD 20-50889929-G-GT
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.0898
- CADD 1.29
- Most common in the HGDP:SAN population (allele frequency 0.083)
- Structural context available
- Literature evidence available