I116V (p.Ile116Val) variant of ATRX (Chromatin remodeler ATRX)
I116V (p.Ile116Val) 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 ATR-X-related syndrome; Alpha thalassemia-X-linked intellectual disability syndr. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
I116V (p.Ile116Val) variant details
- p.Ile116Val
- rs2072198606
- ClinGen CA413723786
- cosmic curated COSV10468
- ClinVar RCV002576000
- Uncertain significance
- ATR-X-related syndrome; Alpha thalassemia-X-linked intellectual disability syndr
- Missense
- Variant Prioritization Score for Impact Estimate 0.347
- REVEL 0.37
- ESM-1b 0.00
- AlphaMissense 0.08
- CADD 16.10
- PolyPhen-2 0.07
- SIFT 0.53
- ClinVar: Uncertain significance (ATR-X-related syndrome; Alpha thalassemia-X-linked intellectual)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.00025)
- Structural context available
- Cited in: Alpha-Thalassemia X-Linked Intellectual Disability Syndrome. (PMID 20301622)