E8D (p.Glu8Asp) variant of ATRX (Chromatin remodeler ATRX)
E8D (p.Glu8Asp) 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 See cases; not provided; Alpha thalassemia-X-linked intellectual disability synd. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
E8D (p.Glu8Asp) variant details
- p.Glu8Asp
- rs2148752831
- ClinGen CA413724779
- cosmic curated COSV64869
- ClinVar RCV001563557
- Uncertain significance
- See cases; not provided; Alpha thalassemia-X-linked intellectual disability synd
- Missense
- Variant Prioritization Score for Impact Estimate 0.341
- REVEL 0.36
- ESM-1b 0.00
- AlphaMissense 0.30
- CADD 19.50
- PolyPhen-2 0.17
- SIFT 0.13
- ClinVar: Uncertain significance (See cases; not provided; Alpha thalassemia-X-linked intellectual)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Structural context available
- Cited in: Alpha-Thalassemia X-Linked Intellectual Disability Syndrome. (PMID 20301622)