R24L (p.Arg24Leu) variant of ARID2 (Q68CP9)
R24L (p.Arg24Leu) in ARID2 (Q68CP9) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and structural context.
R24L (p.Arg24Leu) variant details
- p.Arg24Leu
- TOPMed rs994735646
- gnomAD rs994735646
- Missense
- Variant Prioritization Score for Impact Estimate 0.489
- REVEL 0.39
- MetaLR 0.29
- MetaSVM -0.60
- CADD 28.30
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 7.3e-05)
- Structural context available