L45M (p.Leu45Met) variant of ARID2 (Q68CP9)
L45M (p.Leu45Met) in ARID2 (Q68CP9) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data and structural context.
L45M (p.Leu45Met) variant details
- p.Leu45Met
- ExAC rs755189381
- gnomAD rs755189381
- Missense
- Variant Prioritization Score for Impact Estimate 0.559
- REVEL 0.48
- MetaLR 0.54
- MetaSVM 0.17
- CADD 24.70
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available