D99H (p.Asp99His) variant of ATRX (Chromatin remodeler ATRX)
D99H (p.Asp99His) in ATRX (Chromatin remodeler ATRX) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
D99H (p.Asp99His) variant details
- p.Asp99His
- 1000Genomes rs782269589
- ExAC rs782269589
- gnomAD rs782269589
- Missense
- Variant Prioritization Score for Impact Estimate 0.439
- REVEL 0.46
- ESM-1b 0.00
- AlphaMissense 0.15
- CADD 23.90
- Most common in the 1KG:GIH population (allele frequency 0.0069)
- Structural context available