S48C (p.Ser48Cys) variant of ATRX (Chromatin remodeler ATRX)
S48C (p.Ser48Cys) 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 0.17 / 1. The record also includes population frequency data, published literature, and structural context.
S48C (p.Ser48Cys) variant details
- p.Ser48Cys
- rs1557151486
- ClinGen CA413724476
- ClinVar RCV001920051
- gnomAD rs1557151486
- Likely benign
- Alpha thalassemia-X-linked intellectual disability syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.173
- REVEL 0.18
- ESM-1b 0.00
- AlphaMissense 0.07
- CADD 13.80
- PolyPhen-2 0.00
- SIFT 0.05
- ClinVar: Likely benign (Alpha thalassemia-X-linked intellectual disability syndrome)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Latino/Admixed American population (allele frequency 2.8e-05)
- Structural context available
- Cited in: Alpha-Thalassemia X-Linked Intellectual Disability Syndrome. (PMID 20301622)