R30K (p.Arg30Lys) variant of ARID2 (Q68CP9)
R30K (p.Arg30Lys) in ARID2 (Q68CP9) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
R30K (p.Arg30Lys) variant details
- p.Arg30Lys
- gnomAD 12-45729925-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.468
- REVEL 0.36
- MetaLR 0.27
- MetaSVM -0.65
- CADD 25.40
- PolyPhen-2 0.97
- SIFT 0.13
- Population evidence available
- Structural context available
- Literature evidence available