S66N (p.Ser66Asn) variant of ATRX (Chromatin remodeler ATRX)
S66N (p.Ser66Asn) 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 0.39 / 1. The record also includes population frequency data and structural context.
S66N (p.Ser66Asn) variant details
- p.Ser66Asn
- Ensembl rs2148681656
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.389
- REVEL 0.44
- ESM-1b 0.00
- AlphaMissense 0.10
- CADD 21.80
- PolyPhen-2 0.21
- SIFT 0.05
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.9e-05)
- Structural context available