I35T (p.Ile35Thr) variant of ADNP (Q9H2P0)
I35T (p.Ile35Thr) in ADNP (Q9H2P0) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data, experimental measurements, and structural context.
I35T (p.Ile35Thr) variant details
- p.Ile35Thr
- rs779223805
- ClinGen CA9908959
- ClinVar RCV003719745
- ExAC rs779223805
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.59
- CADD 23.80
- PolyPhen-2 0.05
- SIFT 0.02
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 0.0011)
- Structural context available
- ADNP Homeobox domain domainome 1.0: score -0.235