R78L (p.Arg78Leu) variant of ATRX (Chromatin remodeler ATRX)
R78L (p.Arg78Leu) 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; Intellectual disabi. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes published literature and structural context.
R78L (p.Arg78Leu) variant details
- p.Arg78Leu
- rs2072253922
- ClinGen CA413724250
- ClinVar RCV003154415
- ClinVar RCV004725666
- Conflicting interpretations
- Alpha thalassemia-X-linked intellectual disability syndrome; Intellectual disabi
- Missense
- Variant Prioritization Score for Impact Estimate 0.619
- ESM-1b 0.00
- AlphaMissense 0.89
- MetaLR 0.97
- MetaSVM 1.10
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (Alpha thalassemia-X-linked intellectual disability syndrome; Int)
- EBI: Likely benign
- UniProt: Likely benign
- Structural context available
- Cited in: Alpha-Thalassemia X-Linked Intellectual Disability Syndrome. (PMID 20301622)