H24N (p.His24Asn) variant of ATRX (Chromatin remodeler ATRX)
H24N (p.His24Asn) in ATRX (Chromatin remodeler ATRX) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
H24N (p.His24Asn) variant details
- p.His24Asn
- cosmic curated COSV64869
- TOPMed rs1191670776
- gnomAD rs1191670776
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.435
- REVEL 0.38
- ESM-1b 0.00
- AlphaMissense 0.09
- CADD 21.00
- PolyPhen-2 0.01
- SIFT 0.08
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.9e-05)
- Structural context available