D46H (p.Asp46His) variant of ARID2 (Q68CP9)
D46H (p.Asp46His) in ARID2 (Q68CP9) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data and structural context.
D46H (p.Asp46His) variant details
- p.Asp46His
- TOPMed rs1940949155
- Missense
- Variant Prioritization Score for Impact Estimate 0.7
- REVEL 0.76
- MetaLR 0.56
- MetaSVM 0.18
- CADD 26.50
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available