I85V (p.Ile85Val) variant of ATRX (Chromatin remodeler ATRX)
I85V (p.Ile85Val) in ATRX (Chromatin remodeler ATRX) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Alpha thalassemia-X-linked intellectual disability syndrome; not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
I85V (p.Ile85Val) variant details
- p.Ile85Val
- rs150801485
- ClinGen CA10458336
- ClinVar RCV001051330
- ClinVar RCV005408664
- Conflicting interpretations
- Alpha thalassemia-X-linked intellectual disability syndrome; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.225
- REVEL 0.34
- ESM-1b 0.00
- AlphaMissense 0.05
- CADD 0.41
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Conflicting classifications of pathogenicity (Alpha thalassemia-X-linked intellectual disability syndrome; not)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the African/African-American population (allele frequency 0.00016)
- Structural context available
- Cited in: Alpha-Thalassemia X-Linked Intellectual Disability Syndrome. (PMID 20301622)