A39E (p.Ala39Glu) variant of ARID2 (Q68CP9)
A39E (p.Ala39Glu) in ARID2 (Q68CP9) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
A39E (p.Ala39Glu) variant details
- p.Ala39Glu
- ESP rs139981084
- ExAC rs139981084
- TOPMed rs139981084
- gnomAD rs139981084
- Missense
- Variant Prioritization Score for Impact Estimate 0.302
- REVEL 0.14
- MetaLR 0.17
- MetaSVM -0.96
- CADD 21.40
- PolyPhen-2 0.35
- SIFT 0.04
- Most common in the African/African-American population (allele frequency 9.7e-05)
- Structural context available