S76L (p.Ser76Leu) variant of ATRX (Chromatin remodeler ATRX)
S76L (p.Ser76Leu) in ATRX (Chromatin remodeler ATRX) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign in the context of Alpha thalassemia-X-linked intellectual disability syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
S76L (p.Ser76Leu) variant details
- p.Ser76Leu
- rs782664370
- ClinGen CA10458348
- cosmic curated COSV10529
- ClinVar RCV001514669
- Benign
- Alpha thalassemia-X-linked intellectual disability syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.324
- REVEL 0.34
- ESM-1b 0.00
- AlphaMissense 0.08
- CADD 16.40
- PolyPhen-2 0.00
- SIFT 0.20
- ClinVar: Benign (Alpha thalassemia-X-linked intellectual disability syndrome)
- EBI: Benign
- UniProt: Benign
- Most common in the South Asian population (allele frequency 3.7e-05)
- Structural context available
- Cited in: Alpha-Thalassemia X-Linked Intellectual Disability Syndrome. (PMID 20301622)