D115V (p.Asp115Val) variant of ATRX (Chromatin remodeler ATRX)
D115V (p.Asp115Val) 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; Inborn genetic dise. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data, published literature, and structural context.
D115V (p.Asp115Val) variant details
- p.Asp115Val
- rs1557149892
- ClinGen CA413723793
- ClinVar RCV002940573
- ClinVar RCV003512190
- Conflicting interpretations
- Alpha thalassemia-X-linked intellectual disability syndrome; Inborn genetic dise
- Missense
- Variant Prioritization Score for Impact Estimate 0.525
- REVEL 0.74
- ESM-1b 0.00
- AlphaMissense 0.27
- CADD 25.80
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (Alpha thalassemia-X-linked intellectual disability syndrome; Inb)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 6e-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)