D55G (p.Asp55Gly) variant of ATRX (Chromatin remodeler ATRX)
D55G (p.Asp55Gly) in ATRX (Chromatin remodeler ATRX) 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 0.31 / 1. The record also includes population frequency data and structural context.
D55G (p.Asp55Gly) variant details
- p.Asp55Gly
- rs1332942994
- ClinGen CA413724424
- ClinVar RCV003328781
- TOPMed rs1332942994
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.311
- REVEL 0.30
- ESM-1b 0.00
- AlphaMissense 0.11
- CADD 21.00
- PolyPhen-2 0.11
- SIFT 0.14
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 6e-06)
- Structural context available