S9N (p.Ser9Asn) variant of ATRX (Chromatin remodeler ATRX)
S9N (p.Ser9Asn) 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 provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
S9N (p.Ser9Asn) variant details
- p.Ser9Asn
- rs1237969366
- ClinGen CA413724772
- ClinVar RCV003218888
- TOPMed rs1237969366
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.411
- ESM-1b 0.00
- AlphaMissense 0.25
- MetaLR 0.71
- MetaSVM 0.17
- PolyPhen-2 0.00
- SIFT 0.09
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available