M56K (p.Met56Lys) variant of ATRX (Chromatin remodeler ATRX)
M56K (p.Met56Lys) 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 0.39 / 1. The record also includes published literature and structural context.
M56K (p.Met56Lys) variant details
- p.Met56Lys
- rs782553856
- ClinGen CA413724417
- ClinVar RCV000697753
- ExAC rs782553856
- Uncertain significance
- Alpha thalassemia-X-linked intellectual disability syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.392
- ESM-1b 0.00
- AlphaMissense 0.09
- MetaLR 0.69
- MetaSVM 0.02
- PolyPhen-2 0.26
- SIFT 0.16
- ClinVar: Uncertain significance (Alpha thalassemia-X-linked intellectual disability syndrome)
- EBI: Likely benign
- UniProt: Likely benign
- Structural context available
- Cited in: Alpha-Thalassemia X-Linked Intellectual Disability Syndrome. (PMID 20301622)