E12K (p.Glu12Lys) variant of ARID2 (Q68CP9)
E12K (p.Glu12Lys) in ARID2 (Q68CP9) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
E12K (p.Glu12Lys) variant details
- p.Glu12Lys
- gnomAD rs1490903912
- Missense
- Variant Prioritization Score for Impact Estimate 0.284
- REVEL 0.06
- MetaLR 0.04
- MetaSVM -1.07
- CADD 21.50
- PolyPhen-2 0.07
- SIFT 0.14
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available