R24W (p.Arg24Trp) variant of ARID2 (Q68CP9)
R24W (p.Arg24Trp) in ARID2 (Q68CP9) 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 0.54 / 1. The record also includes population frequency data and structural context.
R24W (p.Arg24Trp) variant details
- p.Arg24Trp
- rs2547601384
- ClinGen CA384609034
- ClinVar RCV003391755
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.536
- REVEL 0.44
- MetaLR 0.40
- MetaSVM -0.23
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available