D93V (p.Asp93Val) variant of ATRX (Chromatin remodeler ATRX)
D93V (p.Asp93Val) 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; not provided; Alpha thalassemia-X-linked intellectual d. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data, published literature, and structural context.
D93V (p.Asp93Val) variant details
- p.Asp93Val
- rs1064796774
- ClinGen CA16621509
- ClinVar RCV000479685
- ClinVar RCV001247873
- Conflicting interpretations
- Inborn genetic diseases; not provided; Alpha thalassemia-X-linked intellectual d
- Missense
- Variant Prioritization Score for Impact Estimate 0.673
- REVEL 0.69
- ESM-1b 1.00
- AlphaMissense 0.10
- MetaLR 0.97
- MetaSVM 1.10
- CADD 24.60
- ClinVar: Conflicting classifications of pathogenicity (Inborn genetic diseases; not provided; Alpha thalassemia-X-linke)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Latino/Admixed American population (allele frequency 2.9e-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)