I85N (p.Ile85Asn) variant of ATRX (Chromatin remodeler ATRX)
I85N (p.Ile85Asn) 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 Inborn genetic diseases; Alpha thalassemia-X-linked intellectual disability synd. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
I85N (p.Ile85Asn) variant details
- p.Ile85Asn
- rs1402319857
- ClinGen CA413724183
- ClinVar RCV001963781
- ClinVar RCV004970659
- Conflicting interpretations
- Inborn genetic diseases; Alpha thalassemia-X-linked intellectual disability synd
- Missense
- Variant Prioritization Score for Impact Estimate 0.422
- REVEL 0.39
- ESM-1b 0.00
- AlphaMissense 0.60
- CADD 25.10
- PolyPhen-2 0.39
- SIFT 0.04
- ClinVar: Conflicting classifications of pathogenicity (Inborn genetic diseases; Alpha thalassemia-X-linked intellectual)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the REMAINING population (allele frequency 6.6e-05)
- Structural context available
- Cited in: Alpha-Thalassemia X-Linked Intellectual Disability Syndrome. (PMID 20301622)
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)