R14K (p.Arg14Lys) variant of ARID2 (Q68CP9)
R14K (p.Arg14Lys) in ARID2 (Q68CP9) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
R14K (p.Arg14Lys) variant details
- p.Arg14Lys
- TOPMed rs1479528154
- gnomAD rs1479528154
- Missense
- Variant Prioritization Score for Impact Estimate 0.413
- REVEL 0.26
- MetaLR 0.29
- MetaSVM -0.68
- CADD 24.00
- PolyPhen-2 0.97
- SIFT 0.11
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available