H24Y (p.His24Tyr) variant of ATRX (Chromatin remodeler ATRX)
H24Y (p.His24Tyr) 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 Inborn genetic diseases; Alpha thalassemia-X-linked intellectual disability synd. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
H24Y (p.His24Tyr) variant details
- p.His24Tyr
- rs1191670776
- ClinGen CA413724668
- ClinVar RCV001042785
- ClinVar RCV001759745
- Uncertain significance
- Inborn genetic diseases; Alpha thalassemia-X-linked intellectual disability synd
- Missense
- Variant Prioritization Score for Impact Estimate 0.489
- REVEL 0.47
- ESM-1b 0.00
- AlphaMissense 0.13
- CADD 22.90
- PolyPhen-2 0.06
- SIFT 0.01
- ClinVar: Uncertain significance (Inborn genetic diseases; Alpha thalassemia-X-linked intellectual)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- 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)