E30Q (p.Glu30Gln) variant of ATRX (Chromatin remodeler ATRX)
E30Q (p.Glu30Gln) 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 specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data and structural context.
E30Q (p.Glu30Gln) variant details
- p.Glu30Gln
- rs1427263828
- ClinGen CA413724627
- ClinVar RCV000502021
- TOPMed rs1427263828
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.523
- REVEL 0.50
- ESM-1b 0.00
- AlphaMissense 0.23
- CADD 25.00
- PolyPhen-2 0.98
- SIFT 0.02
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 3.2e-05)
- Structural context available