G49R (p.Gly49Arg) variant of ARID2 (Q68CP9)
G49R (p.Gly49Arg) 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.
G49R (p.Gly49Arg) variant details
- p.Gly49Arg
- TOPMed rs1039424180
- Missense
- Variant Prioritization Score for Impact Estimate 0.303
- REVEL 0.22
- MetaLR 0.09
- MetaSVM -0.99
- CADD 22.50
- PolyPhen-2 0.66
- SIFT 0.03
- Most common in the Middle Eastern population (allele frequency 0.00035)
- Structural context available