L47P (p.Leu47Pro) variant of ARID2 (Q68CP9)
L47P (p.Leu47Pro) in ARID2 (Q68CP9) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data, published literature, and structural context.
L47P (p.Leu47Pro) variant details
- p.Leu47Pro
- gnomAD 12-45730091-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.756
- REVEL 0.89
- MetaLR 0.71
- MetaSVM 0.47
- CADD 27.00
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available