D163G (p.Asp163Gly) variant of ATRX (Chromatin remodeler ATRX)
D163G (p.Asp163Gly) in ATRX (Chromatin remodeler ATRX) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data and structural context.
D163G (p.Asp163Gly) variant details
- p.Asp163Gly
- Ensembl rs2071731492
- Missense
- Variant Prioritization Score for Impact Estimate 0.635
- REVEL 0.63
- ESM-1b 1.00
- AlphaMissense 0.68
- CADD 22.50
- PolyPhen-2 0.25
- SIFT 0.27
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Structural context available