S84A (p.Ser84Ala) variant of ATRX (Chromatin remodeler ATRX)
S84A (p.Ser84Ala) 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.
S84A (p.Ser84Ala) variant details
- p.Ser84Ala
- rs1569540556
- ClinGen CA413724198
- ClinVar RCV001755523
- Ensembl rs1569540556
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.39
- REVEL 0.44
- ESM-1b 0.00
- AlphaMissense 0.09
- CADD 18.60
- PolyPhen-2 0.05
- SIFT 0.12
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Structural context available