L45V (p.Leu45Val) variant of ARID2 (Q68CP9)
L45V (p.Leu45Val) in ARID2 (Q68CP9) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
L45V (p.Leu45Val) variant details
- p.Leu45Val
- ExAC rs755189381
- gnomAD rs755189381
- Missense
- Variant Prioritization Score for Impact Estimate 0.409
- REVEL 0.25
- MetaLR 0.27
- MetaSVM -0.69
- CADD 23.10
- PolyPhen-2 0.99
- SIFT 0.29
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available