T87A (p.Thr87Ala) variant of ATRX (Chromatin remodeler ATRX)
T87A (p.Thr87Ala) 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 0.52 / 1. The record also includes population frequency data and structural context.
T87A (p.Thr87Ala) variant details
- p.Thr87Ala
- rs1557150036
- ClinGen CA413724159
- ClinVar RCV000519743
- Ensembl rs1557150036
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.522
- REVEL 0.59
- ESM-1b 0.00
- AlphaMissense 0.36
- CADD 23.40
- PolyPhen-2 0.98
- SIFT 0.08
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Structural context available