T52A (p.Thr52Ala) variant of ADNP (Q9H2P0)
T52A (p.Thr52Ala) 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 0.58 / 1. The record also includes population frequency data and structural context.
T52A (p.Thr52Ala) variant details
- p.Thr52Ala
- rs997944825
- ClinGen CA315264421
- ClinVar RCV003690649
- TOPMed rs997944825
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.584
- CADD 22.10
- PolyPhen-2 0.04
- SIFT 0.13
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available