E101A (p.Glu101Ala) variant of ATRX (Chromatin remodeler ATRX)
E101A (p.Glu101Ala) in ATRX (Chromatin remodeler ATRX) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data and structural context.
E101A (p.Glu101Ala) variant details
- p.Glu101Ala
- TOPMed rs1557149948
- gnomAD rs1557149948
- NCI-TCGA Cosmic COSV1009
- cosmic curated COSV10890
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.477
- REVEL 0.54
- ESM-1b 0.00
- AlphaMissense 0.11
- CADD 19.90
- PolyPhen-2 0.49
- SIFT 0.12
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 1.9e-05)
- Structural context available