M56T (p.Met56Thr) variant of ATRX (Chromatin remodeler ATRX)
M56T (p.Met56Thr) in ATRX (Chromatin remodeler ATRX) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Alpha thalassemia-X-linked intellectual disability syndrome; Inborn genetic dise. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
M56T (p.Met56Thr) variant details
- p.Met56Thr
- rs782553856
- ClinGen CA10458369
- ClinVar RCV002117482
- ClinVar RCV006327441
- Conflicting interpretations
- Alpha thalassemia-X-linked intellectual disability syndrome; Inborn genetic dise
- 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: Conflicting classifications of pathogenicity (Alpha thalassemia-X-linked intellectual disability syndrome; Inb)
- EBI: Likely benign
- UniProt: Likely benign
- Population evidence available
- Structural context available
- Cited in: Alpha-Thalassemia X-Linked Intellectual Disability Syndrome. (PMID 20301622)
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)