S71F (p.Ser71Phe) variant of ATRX (Chromatin remodeler ATRX)
S71F (p.Ser71Phe) 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 0.60 / 1. The record also includes published literature and structural context.
S71F (p.Ser71Phe) variant details
- p.Ser71Phe
- rs2148681475
- ClinGen CA413724291
- ClinVar RCV003624712
- Ensembl rs2148681475
- Uncertain significance
- Alpha thalassemia-X-linked intellectual disability syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.596
- ESM-1b 0.29
- AlphaMissense 0.08
- MetaLR 0.94
- MetaSVM 0.75
- PolyPhen-2 0.93
- SIFT 0.02
- ClinVar: Uncertain significance (Alpha thalassemia-X-linked intellectual disability syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Alpha-Thalassemia X-Linked Intellectual Disability Syndrome. (PMID 20301622)