D106N (p.Asp106Asn) variant of ATRX (Chromatin remodeler ATRX)
D106N (p.Asp106Asn) in ATRX (Chromatin remodeler ATRX) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
D106N (p.Asp106Asn) variant details
- p.Asp106Asn
- ExAC rs782614024
- gnomAD rs782614024
- Missense
- Variant Prioritization Score for Impact Estimate 0.4
- REVEL 0.36
- ESM-1b 0.00
- AlphaMissense 0.07
- CADD 21.80
- PolyPhen-2 0.40
- SIFT 0.20
- Most common in the South Asian population (allele frequency 1.9e-05)
- Structural context available