D46E (p.Asp46Glu) variant of ARID2 (Q68CP9)
D46E (p.Asp46Glu) in ARID2 (Q68CP9) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data and structural context.
D46E (p.Asp46Glu) variant details
- p.Asp46Glu
- Ensembl rs2137959802
- Missense
- Variant Prioritization Score for Impact Estimate 0.499
- REVEL 0.60
- MetaLR 0.47
- MetaSVM -0.21
- CADD 24.20
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available