T65N (p.Thr65Asn) variant of ATRX (Chromatin remodeler ATRX)
T65N (p.Thr65Asn) 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 Alpha thalassemia-X-linked intellectual disability syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
T65N (p.Thr65Asn) variant details
- p.Thr65Asn
- rs2148681705
- ClinGen CA413724335
- ClinVar RCV003018585
- Uncertain significance
- Alpha thalassemia-X-linked intellectual disability syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.372
- REVEL 0.34
- ESM-1b 0.00
- AlphaMissense 0.07
- CADD 15.40
- PolyPhen-2 0.00
- SIFT 0.59
- ClinVar: Uncertain significance (Alpha thalassemia-X-linked intellectual disability syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- Cited in: Alpha-Thalassemia X-Linked Intellectual Disability Syndrome. (PMID 20301622)