E110D (p.Glu110Asp) variant of ATRX (Chromatin remodeler ATRX)
E110D (p.Glu110Asp) in ATRX (Chromatin remodeler ATRX) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
E110D (p.Glu110Asp) variant details
- p.Glu110Asp
- gnomAD rs1557149904
- Missense
- Variant Prioritization Score for Impact Estimate 0.307
- REVEL 0.31
- ESM-1b 0.00
- AlphaMissense 0.07
- CADD 16.30
- PolyPhen-2 0.01
- SIFT 0.31
- Most common in the Latino/Admixed American population (allele frequency 2.8e-05)
- Structural context available