D21E (p.Asp21Glu) variant of ARID2 (Q68CP9)
D21E (p.Asp21Glu) in ARID2 (Q68CP9) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
D21E (p.Asp21Glu) variant details
- p.Asp21Glu
- gnomAD 12-45729899-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.384
- REVEL 0.21
- MetaLR 0.23
- MetaSVM -0.83
- CADD 22.90
- PolyPhen-2 0.99
- SIFT 0.11
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available