A78T (p.Ala78Thr) variant of ADNP (Q9H2P0)
A78T (p.Ala78Thr) in ADNP (Q9H2P0) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data and structural context.
A78T (p.Ala78Thr) variant details
- p.Ala78Thr
- rs2122765289
- ClinGen CA408979881
- ClinVar RCV002246945
- Ensembl rs2122765289
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.726
- CADD 22.10
- PolyPhen-2 0.11
- SIFT 0.11
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 3.8e-05)
- Structural context available