D11E (p.Asp11Glu) variant of ARID2 (Q68CP9)
D11E (p.Asp11Glu) in ARID2 (Q68CP9) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
D11E (p.Asp11Glu) variant details
- p.Asp11Glu
- gnomAD 12-45729869-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.24
- REVEL 0.09
- MetaLR 0.04
- MetaSVM -1.01
- CADD 19.80
- PolyPhen-2 0.48
- SIFT 0.17
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available