I85T (p.Ile85Thr) variant of ATRX (Chromatin remodeler ATRX)
I85T (p.Ile85Thr) 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 0.37 / 1. The record also includes population frequency data and structural context.
I85T (p.Ile85Thr) variant details
- p.Ile85Thr
- cosmic curated COSV64869
- TOPMed rs1402319857
- gnomAD rs1402319857
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.368
- REVEL 0.32
- ESM-1b 0.00
- AlphaMissense 0.28
- CADD 21.40
- PolyPhen-2 0.03
- SIFT 0.11
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 1.9e-05)
- Structural context available