T71A (p.Thr71Ala) variant of ADNP (Q9H2P0)
T71A (p.Thr71Ala) in ADNP (Q9H2P0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data and structural context.
T71A (p.Thr71Ala) variant details
- p.Thr71Ala
- gnomAD rs1386764011
- Missense
- Variant Prioritization Score for Impact Estimate 0.595
- CADD 23.60
- PolyPhen-2 0.10
- SIFT 0.01
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available