S48G (p.Ser48Gly) variant of ATRX (Chromatin remodeler ATRX)
S48G (p.Ser48Gly) in ATRX (Chromatin remodeler ATRX) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Alpha thalassemia-X-linked intellectual disability syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data, published literature, and structural context.
S48G (p.Ser48Gly) variant details
- p.Ser48Gly
- rs1557151486
- ClinGen CA413724475
- ClinVar RCV003870631
- gnomAD rs1557151486
- Likely benign
- Alpha thalassemia-X-linked intellectual disability syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.161
- REVEL 0.19
- ESM-1b 0.00
- AlphaMissense 0.07
- CADD 7.69
- PolyPhen-2 0.00
- SIFT 0.15
- ClinVar: Likely benign (Alpha thalassemia-X-linked intellectual disability syndrome)
- 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)