A3T (p.Ala3Thr) variant of ATRX (Chromatin remodeler ATRX)
A3T (p.Ala3Thr) 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 0.28 / 1. The record also includes population frequency data and structural context.
A3T (p.Ala3Thr) variant details
- p.Ala3Thr
- NCI-TCGA TCGA novel
- Ensembl rs2148995161
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.282
- REVEL 0.25
- ESM-1b 0.00
- AlphaMissense 0.30
- CADD 23.00
- PolyPhen-2 0.00
- SIFT 0.01
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available
- Structural context available