G49R (p.Gly49Arg) variant of SMARCA2 (P51531)
G49R (p.Gly49Arg) in SMARCA2 (P51531) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data, published literature, and structural context.
G49R (p.Gly49Arg) variant details
- p.Gly49Arg
- gnomAD 9-2029167-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.659
- REVEL 0.57
- AlphaMissense 0.95
- MetaLR 0.73
- MetaSVM 0.54
- CADD 31.00
- PolyPhen-2 0.99
- Population evidence available
- Structural context available
- Literature evidence available