Q129* (p.Gln129Ter) variant of ATRX (Chromatin remodeler ATRX)
Q129* (p.Gln129Ter) in ATRX (Chromatin remodeler ATRX) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data and structural context.
Q129* (p.Gln129Ter) variant details
- p.Gln129Ter
- Ensembl rs2148669922
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.775
- CADD 35.00
- Population evidence available
- Structural context available