D2035V (p.Asp2035Val) variant of ATRX (Chromatin remodeler ATRX)
D2035V (p.Asp2035Val) in ATRX (Chromatin remodeler ATRX) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Alpha thalassemia-X-linked intellectual disability syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.94 / 1. The record also includes published literature and structural context.
D2035V (p.Asp2035Val) variant details
- p.Asp2035Val
- rs122445096
- ClinGen CA256025
- ClinVar RCV000012491
- UniProt VAR 001238
- Pathogenic
- Alpha thalassemia-X-linked intellectual disability syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.937
- ESM-1b 1.00
- AlphaMissense 0.98
- MetaLR 0.89
- MetaSVM 0.97
- SIFT 0.00
- MutPred 0.84
- ClinVar: Pathogenic (Alpha thalassemia-X-linked intellectual disability syndrome)
- EBI: Pathogenic (in ATRX)
- UniProt: Pathogenic (in ATRX)
- Structural context available
- Cited in: A novel transcription regulatory complex containing death domain-associated protein and the ATR-X syndrome protein. (PMID 14990586)
- Cited in: Mutations in a putative global transcriptional regulator cause X-linked mental retardation with alpha-thalassemia… (PMID 7697714)