S52G (p.Ser52Gly) variant of ATRX (Chromatin remodeler ATRX)
S52G (p.Ser52Gly) in ATRX (Chromatin remodeler ATRX) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
S52G (p.Ser52Gly) variant details
- p.Ser52Gly
- TOPMed rs2072320800
- Missense
- Variant Prioritization Score for Impact Estimate 0.257
- REVEL 0.26
- ESM-1b 0.00
- AlphaMissense 0.06
- CADD 18.80
- PolyPhen-2 0.00
- SIFT 0.31
- Most common in the REMAINING population (allele frequency 2.2e-05)
- Structural context available