R24Q (p.Arg24Gln) variant of ARID2 (Q68CP9)
R24Q (p.Arg24Gln) in ARID2 (Q68CP9) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
R24Q (p.Arg24Gln) variant details
- p.Arg24Gln
- TOPMed rs994735646
- gnomAD rs994735646
- Missense
- Variant Prioritization Score for Impact Estimate 0.403
- REVEL 0.24
- MetaLR 0.22
- MetaSVM -0.80
- CADD 25.10
- PolyPhen-2 0.99
- SIFT 0.19
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available