A8S (p.Ala8Ser) variant of ARID2 (Q68CP9)
A8S (p.Ala8Ser) in ARID2 (Q68CP9) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of ARID2-related disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
A8S (p.Ala8Ser) variant details
- p.Ala8Ser
- rs1374980785
- ClinGen CA384608934
- ClinVar RCV003397559
- TOPMed rs1374980785
- Uncertain significance
- ARID2-related disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.266
- REVEL 0.05
- MetaLR 0.03
- MetaSVM -1.02
- CADD 18.90
- PolyPhen-2 0.01
- SIFT 0.08
- ClinVar: Uncertain significance (ARID2-related disorder)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available