D100G (p.Asp100Gly) variant of ATRX (Chromatin remodeler ATRX)
D100G (p.Asp100Gly) in ATRX (Chromatin remodeler ATRX) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
D100G (p.Asp100Gly) variant details
- p.Asp100Gly
- rs782377443
- ExAC rs782377443
- gnomAD rs782377443
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.393
- REVEL 0.39
- ESM-1b 0.00
- AlphaMissense 0.09
- CADD 23.70
- PolyPhen-2 0.99
- SIFT 0.13
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the South Asian population (allele frequency 3.7e-05)
- Structural context available