D45V (p.Asp45Val) variant of ATRX (Chromatin remodeler ATRX)
D45V (p.Asp45Val) 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 not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
D45V (p.Asp45Val) variant details
- p.Asp45Val
- rs1557151500
- ClinGen CA413724495
- ClinVar RCV000513135
- ClinVar RCV003444562
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.451
- REVEL 0.48
- ESM-1b 0.00
- AlphaMissense 0.14
- CADD 23.80
- PolyPhen-2 0.09
- SIFT 0.01
- ClinVar: Uncertain significance (not provided)
- 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)