A107G (p.Ala107Gly) variant of ATRX (Chromatin remodeler ATRX)
A107G (p.Ala107Gly) in ATRX (Chromatin remodeler ATRX) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
A107G (p.Ala107Gly) variant details
- p.Ala107Gly
- NCI-TCGA Cosmic COSV1009
- ExAC rs782431661
- TOPMed rs782431661
- gnomAD rs782431661
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.343
- REVEL 0.31
- ESM-1b 0.00
- AlphaMissense 0.09
- CADD 22.20
- PolyPhen-2 0.52
- SIFT 0.28
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Structural context available